It is health that is real wealth
and not pieces of gold and silver

- Mahatma Gandhi

Conditions

Amino acid disorders:

Section 1 Argininemia (ARG):

Lorem ipsum dolor sit amet, consectetur adipisicing elit, sed do eiusmod tempor incididunt ut labore et dolore magna aliqua. Ut enim ad minim veniam, quis nostrud exercitation ullamco laboris nisi ut aliquip ex ea commodo consequat.
Lorem ipsum dolor sit amet, consectetur adipisicing elit, sed do eiusmod tempor incididunt ut labore et dolore magna aliqua. Ut enim ad minim veniam, quis nostrud exercitation ullamco laboris nisi ut aliquip ex ea commodo consequat.

Argininemia (ARG):
Argininemia (ARG) is a condition that causes harmful amounts of arginine and ammonia to build up in the body. It is considered an amino acid condition because people affected with ARG are unable to break down an amino acid, a small molecule that makes up proteins, known as arginine. You may also hear ARG called a urea cycle condition. This name is used to describe conditions that cause ammonia to accumulate in the body. If untreated, argininemia can cause muscle problems and developmental delay. However, if the condition is detected early and proper treatment is initiated, individuals with argininemia can often lead healthy lives.

Argininosuccinic Aciduria (ASA):
Argininosuccinic aciduria (ASA) is a condition that causes dangerous amounts of ammonia to build up in the body. ASA is considered an amino acid condition because people with ASA are unable to process a waste product, ammonia, that is produced when the body breaks down amino acids. You may also hear ASA described as a urea cycle condition. This name is used to describe conditions in which the body’s system for removing ammonia from the blood is not working correctly. Early detection and treatment can prevent many of the serious outcomes of ASA.

5-Oxoprolinuria (5-OXO):
5-oxoprolinuria, or pyroglutamic aciduria, is an inherited disorder of amino acid metabolism, caused by an enzymatic defect in glutathione co-enzyme production. 5-oxoproline, a by-product of glutathione deficiency, accumulates in blood and cerebrospinal fluid, is excreted in urine and is the compound detected by newborn screening. Early diagnosis and prompt treatment is essential for an improved prognosis. Individuals with GSD require prompt correction of any metabolic acidosis and/or hyperbilirubinemia to help prevent brain damage. Oral maintenance doses of sodium bicarbonate or citrate may help to correct chronic acidosis. Anemia may require transfusions and any electrolyte imbalances should be corrected.

arbamoylphosphate Synthetase Deficiency (CPS 1):
Carbamoyl phosphate synthetase I deficiency (CPS) is an inherited condition in which the body is unable to process and remove the waste, ammonia. CPS is considered an amino acid condition because ammonia is produced when the body breaks down proteins in food into their basic building blocks (amino acids).  When the body’s process for removing waste is disrupted, dangerous amounts of ammonia begin to build up in the blood. If left untreated, this can result in developmental delay, intellectual disabilities, or even death.  For the best possible outcome, it is important to identify CPS through newborn screening and begin proper treatment early.

Citrullinemia (CIT)
Citrullinemia is an autosomal recessively inherited disorder of urea cycle metabolism and ammonia detoxification characterized by elevated concentrations of serum citrulline and ammonia. The disease presents with a large range of manifestations including neonatal hyperammonemic encephalopathy with lethargy, seizures and coma; hepatic dysfunction in all age groups; episodes of hyperammonemia and neuropsychiatric symptoms in children or adults, or, can be asymptomatic in some cases (detected in newborn screening programs). Citrullinemia is divided into two main groups that are encoded by different genes: citrullinemia type I (comprised of acute neonatal citrullinemia type I and adult-onset citrullinemia type I) and citrin deficiency (comprised of adult-onset citrullinemia type II and neonatal intrahepatic cholestasis due to citrin deficiency).

Citrullinemia, type II (CIT II)
Citrullinemia, type II (CIT II) is a condition in which the body is unable to make citrin, a protein that helps move substances within the cells. These substances are important for breaking down sugars, producing proteins and nucleotides, and allowing for the normal function of the liver. CIT II is considered an amino acid condition because people with this condition are unable to transport certain amino acids into mitochondria, the energy-production centers of the cell. You may also hear CIT II called a urea cycle condition. This name is used to describe conditions that cause ammonia to accumulate in the bloodstream.

Homocystinuria (HCY)
Homocystinuria (HCY) is a condition in which the body is unable to break down certain proteins. HCY is considered an amino acid condition because individuals with homocystinuria cannot process certain amino acids, small molecules that make up proteins. These amino acids build up in the body and can cause serious health problems. However, if homocystinuria is detected early and treatment is begun, children with homocystinuria can often lead healthy lives.

Hypermethioninemia (MET)
Hypermethioninemia (MET) is a condition that occurs when there is a high amount of methionine in the body. It is considered an amino acid condition because people with MET are unable to break down an amino acid, a building block of proteins, known as methionine. Many people with MET do not show signs of the condition. However, if MET is untreated, it can cause learning delays, muscle weakness, and other health problems in some affected individuals.

Hyperammonemia, Hyperornithinemia, Homocitrullinuria Syndrome (HHH)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH) is a condition in which the body is unable to process and remove the waste, ammonia. It considered an amino acid condition because, ammonia, is produced when the body breaks down proteins in food into their basic building blocks (amino acids). When the body’s process for removing waste is disrupted, dangerous amounts of ammonia begin to build up in the blood.  If left untreated, this can result in developmental delay, learning disabilities, or stiffness caused by abnormal tensing of muscles (spasticity).  Early detection through newborn screening and treatment can prevent many of the serious symptoms and outcomes of HHH.

Hyperornithinemia with Gyral Atrophy (HOGA)
Hyperornithine with gyrate deficiency (Hyper ORN) is an inherited condition that results in progressive vision loss. It is considered an amino acid condition because individuals with Hyper ORN are unable to breakdown and process a certain amino acid (building blocks of protein) called ornithine. This causes harmful levels of ornithine to build up in the body, leading to a variety of problems affecting the eyes. In some cases, detecting Hyper ORN early and beginning proper treatment may help prevent or delay some of the severe health outcomes associated with the condition.

Maple Syrup Urine Disease (MSUD)
Maple syrup urine disease (MSUD) is a condition in which the body is unable to break down certain proteins. The condition is named for the sweet odor of the urine of untreated babies. MSUD is considered an amino acid condition because people with MSUD have trouble breaking down certain amino acids, the building blocks of proteins. Detecting MSUD early and beginning treatment can often prevent the severe outcomes of the condition.

Classical Phenylketonuria (PKU)
Phenylketonuria (PKU) is a condition in which the body cannot break down one of the amino acids found in proteins. PKU is an inborn error of Metabolism caused by increased levels of amino acid, phenylalanine in the Blood. This genetic disorder is a result of a defective gene which could not help in the formation of an enzyme that breaks phenylalanine. Due to this defect, the body builds up excessive amount of phenylalanine while the affected person eats high protein rich diet.If not treated, PKU affects the brain & nervous system which results in Intellectual disabilities, epilepsy, learning & behavioral difficulties, hyperactivity, abnormally small head, poor bone strength, eczema etc.If PKU is detected early using newborn screening test, the above said symptoms can be prevented & the affected kids can lead a normal life with diet modification.

Tyrosinemia
Tyrosinemia is a condition with multiple forms, which each have different outcomes and treatments.
Tyrosinemia, type I (TYR I)
Tyrosinemia, type I (TYR I) is an inherited condition in which the body is unable to break down certain building blocks of proteins, known as amino acids. TYR I is considered an amino acid condition because people with this condition are unable to break down the amino acid tyrosine. Detecting the condition early and beginning treatment can often prevent the severe outcomes of TYR I.
Tyrosinemia, type II (TYR II)
Tyrosinemia, type II (TYR II) is a condition that can affect the eyes, skin, and intellectual development. It is considered an amino acid condition because people with TYR II are unable to break down an amino acid, a small molecule that makes up proteins, known as tyrosine. Detecting TYR II early and beginning treatment can prevent some of the severe outcomes of the condition.
Tyrosinemia, type III (TYR III)
Tyrosinemia, type III (TYR III) is an inherited condition in which the body is unable to break down certain building blocks of proteins, known as amino acids. It is considered an amino acid condition because people with this condition are unable to break down the amino acid tyrosine. TYR III can cause learning problems, seizures, and loss of balance. However, detecting TYR III early and beginning treatment can prevent some of the serious outcomes of the condition

Ornithine transcarbamylase deficiency (OTC)
Ornithine transcarbamylase deficiency (OTC) is a condition in which the body is unable to process and remove the waste, ammonia. It considered an amino acid condition because ammonia is produced when the body breaks down proteins in food into their basic building blocks (amino acids). When the body’s process for removing waste is disrupted, dangerous amounts of ammonia begin to build up in the blood. This can result in severe mental disability, seizures, and a variety of other life-threatening medical problems. For the best possible outcome, early detection of OTC through newborn screening and immediate treatment are essential.

Biopterin defect in cofactor biosynthesis (BIOPT-BS)
Biopterin defect in cofactor biosynthesis (BIOPT-BS) is a condition that causes high amounts of phenylalanine and other harmful substances to build up in the body. It is considered an amino acid condition because people with BIOPT-BS are unable to process certain amino acids, small molecules that make up proteins. Detecting the condition early and beginning treatment can often prevent the severe outcomes of BIOPT-BS.

Biopterin defect in cofactor regeneration (BIOPT-REG)
Biopterin defect in cofactor regeneration (BIOPT-REG) is a condition that causes high amounts of phenylalanine and other harmful substances to build up in the body. It is considered an amino acid condition because people with BIOPT-REG are unable to process certain amino acids, small molecules that make up proteins. Detecting the condition early and beginning treatment can often prevent the severe outcomes of BIOPT-REG.

Fatty Acid Oxidation Disorders

Carnitine  Acylcarnitine Translocase Deficiency CACT
Carnitine acylcarnitine translocase deficiency (CACT) is a condition in which the body is unable to break down certain fats. It is considered a fatty acid oxidation condition because people affected by CACT are unable to break down some of the fats they eat into energy the body needs to function. This can cause too many unused fatty acids build up in the body. Detecting the condition early and beginning treatment can help prevent some of the severe outcomes of CACT.

3-Hydroxy Long Chain Acyl-Co Dehydrogenase Deficiency (LCHAD)
Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) is a condition in which the body is unable to break down certain fats. It is considered a fatty acid oxidation condition because people affected by LCHAD are unable to change some of the fats they eat into energy the body needs to function. Instead, too many unused fatty acids build up in the body. Detecting the condition early and beginning treatment can prevent many of the severe outcomes of LCHAD.

Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCAD)
Medium-chain acyl-CoA dehydrogenase deficiency (MCAD) is a condition in which the body is unable to break down certain fats. It is considered a fatty acid oxidation condition because people affected with MCAD are unable to change some of the fats they eat into energy the body needs to function. Instead, too many unused fatty acids build up in the body. If untreated, MCAD can cause brain damage and breathing problems. However, if the condition is detected early and proper treatment is begun, people affected by MCAD can often lead healthy lives.

Neonatal Carnitine Palmitoyl Transferase Deficiency Type II (CPT-II)
Carnitine palmitoyltransferase type II deficiency (CPT-II) is a condition in which the body is unable to break down certain fats. It is considered a fatty acid oxidation condition because people affected with CPT-II are unable to change some of the fats they eat into energy the body needs to function. This can cause too many unused fatty acids to build up in the body. The health outcomes and treatment of CPT-II depend on the age of onset. Detecting the condition early and beginning treatment can often prevent many of the severe health outcomes of CPT-II

Very Long Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD)
Very-long-chain acyl-CoA dehydrogenase deficiency (VLCAD) is a condition in which the body is unable to break down certain fats. It is considered a fatty acid oxidation condition because people affected by VLCAD are unable to convert some of the fats they eat into energy the body needs to function. Instead, too many unused fatty acids build up in the body. If untreated, VLCAD can cause brain damage and even death. However, if the condition is detected early in life and proper treatment is begun, individuals affected with VLCAD often can lead healthy lives.

Carnitine Palmitoyl Transferase Deficiency Type I (CPT-I)
Carnitine palmitoyltransferase I deficiency (CPT-1A) is a condition in which the body is unable to break down certain fats. It is considered a fatty acid oxidation condition because people affected with CPT-1A are unable to change some of the fats they eat and store in their body into the energy the body needs to function. This can cause too many unused fatty acids to build up in the body. Detecting the condition early and beginning treatment can often prevent the severe outcomes of CPT-1A.

2,4-Dienoyl-CoA Reductase Deficiency (DE-RED)
2,4 Dienoyl-CoA reductase deficiency (DE RED) is a condition in which the body is unable to break down certain fats. It is considered a fatty acid oxidation condition because people affected with DE RED are unable to change some of the fats they eat into the energy the body needs to function. DE RED can cause weak muscle tone and can lead to the presence of too much acid in the blood. The effectiveness of treatment is currently unknown.

Multiple Acyl-CoA Dehydrogenase Deficiency (MADD)
Multiple acyl-CoA dehydrogenation deficiency (MADD) is a disorder of fatty acid and amino acid oxidation and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure.Treatment for the more severe phenotypes involves restriction of both fat and protein and reliance on a high carbohydrate diet. Strict avoidance of fasting and of other precipitating stresses is essential. Emergency regimens should be available for any metabolic decompensation. Riboflavin supplementation of 100-400 mg/day is a very effective treatment for patients with rr-MADD as is CoQ10 supplementation in some. For moderately severe cases, 3-hydroxybutyrate has been used successfully, but further studies are still needed.

Short-chain Acyl-CoA Dehydrogenase Deficiency SCAD

Short-chain acyl-CoA dehydrogenase deficiency (SCAD) is a condition in which the body is unable to break down certain fats. SCAD is considered a fatty acid oxidation condition because people affected by the condition are unable to change some of the fats they eat into energy the body needs to function. Most individuals who are identified as having SCAD never experience symptoms, while some individuals experience serious health effects. Detecting the condition early and beginning treatment may help prevent many of the serious outcomes of SCAD.

Trifunctional Protein Deficiency (TFP)
Trifunctional protein deficiency (TFP) is a condition in which the body is unable to break down certain fats. It is considered a fatty acid oxidation condition because people affected by TFP are unable to change some of the fats they eat into energy the body needs to function. Instead, too many unused fatty acids build up in the body. Detecting TFP early and beginning treatment can often prevent some of the severe outcomes of TFP.

Short chain Hydroxy Acyl-CoA Dehydrogenase Deficiency (SCHAD)
Medium/short-chain acyl-CoA dehydrogenase deficiency (M/SCHAD) is a condition in which the body is unable to break down certain fats. M/SCHAD is considered a fatty acid oxidation condition because people affected with the condition are unable to change some of the fats they eat into energy the body needs to function. This can cause unused fatty acids to build up in the body. Most individuals who are identified as having M/SCHAD never experience symptoms, but some individuals experience serious health effects from M/SCHAD.

Carnitine Uptake Deficiency (CUD)
Carnitine uptake defect (CUD) is an inherited condition in which the body cannot bring enough carnitine, a substance that helps the body make energy from fats, into the cells. CUD is considered a fatty acid oxidation condition because people affected by CUD are unable to break down certain fats. This can result in a build-up of unused fatty acids. If untreated, CUD can cause brain damage or death. However, with early detection and treatment, individuals with CUD can often lead healthy lives.

Medium-chain ketoacyl-CoA thiolase deficiency (MCAT)
Medium-chain ketoacyl-CoA thiolase deficiency (MCAT) is a condition in which the body is unable to break down certain fats. It is considered a fatty acid oxidation condition because people affected by MCAT are unable to change some of the fats they eat into energy the body needs to function. This can cause too many unused fatty acids build up in the body. If left untreated, MCAT can cause vomiting, liver problems, and death. The effectiveness of treatment is unknown.

Organic Acid Oxidation Disorders

3-Hydroxy-3-Methylglutaryl-CoA  Lyase Deficiency (HMG)
3-hydroxy-3-methylglutaric aciduria (HMG) is a condition in which the body is unable to break down certain proteins. People with the condition are also unable to produce ketone bodies, substances that help the body store energy.  HMG is considered an organic acid condition because it can lead to a harmful amount of organic acids and toxins in the body.  Early detection and treatment can often prevent the serious outcomes of this condition.

Glutaric Acidemia Type I (GA-I)
Glutaric acidemia, type I (GA-1) is an inherited condition in which the body is unable to break down certain proteins properly. It is considered an organic acid condition because GA-1 can lead to a harmful amount of organic acids and toxins in the body. If the condition is left untreated, it can cause brain defects or even death. However, if the condition is identified early in life and proper treatment is begun, children with GA-1 can often lead healthy lives.

Isobutyryl-CoA Dehydrogenase Deficiency (IBG)
Isobutyrylglycinuria (IBG) is an inherited condition in which the body is unable to break down certain proteins. It is classified as an organic acid condition because IBG can lead to a harmful amount of organic acids and other toxins in the body. Symptoms of the condition vary. If IBG is identified early and treatment is begun, individuals with the condition may be able to lead healthy lives.

Isovaleric Acidemia (IVA)
Isovaleric acidemia (IVA) is an inherited condition in which the body is unable to break down certain proteins properly. It is considered an organic acid condition because it can lead to a harmful buildup of organic acids and toxins in the body. If untreated, IVA can cause brain damage and even death. However, if the condition is identified early in life and proper treatment is begun, children with IVA oten can lead healthy lives.

2-Methylbutyryl-CoA Dehydrogenase Deficiency (2MBG)
2-methylbutyrylglycinuria (2MBG) is an inherited condition in which the body is unable to break down certain proteins.  It is classified as an organic acid condition because 2MBG can lead to a harmful amount of organic acids and toxins in the body.  Symptoms of the condition vary. If 2MBG is identified early and treatment is begun, individuals with 2MBG can often lead healthy lives.

3-Methylcrotonyl-CoA Carboxylase Deficiency (3MCC)
3-methylcrotonyl-CoA carboxylase deficiency (3-MCC) is an inherited condition in which the body is unable to break down certain proteins properly. 3-MCC is considered an organic acid condition because it can lead to harmful amounts of organic acids and toxins in the body. Symptoms of 3-MCC vary. Early detection and treatment can often help children with 3-MCC lead healthy lives.

3-Methylglutaconyl-CoA Hydratase Deficiency (3MGA)
3-methylglutaconic aciduria (3MGA) is the name for a group of five different conditions. All of these conditions affect the body’s mitochondria, the part of a human cell that produces energy. The causes, symptoms, and treatment of the five different types of 3MGA vary. However, all types of 3MGA are classified as organic acid conditions because they can result in a build-up of harmful amounts of organic acids and toxins in the body.

Methymalonyl-CoA Mutase Deficiency (MUT)
Methylmalonic acidemia is a condition with many different forms, all of which have different causes and treatments. Methylmalonic acidemia caused by methylmalonyl-CoA mutase deficiency is just one type of methylmalonic acidemia. To learn about other types of methylmalonic acidemia.MMA is an inherited condition in which the body is unable to break down certain fats and proteins. It is considered an organic acid condition because it can lead to a harmful amount of organic acids and toxins in the body

Methylmalonic Acidemia (Cobalamin disorders) Cbl A, B
MMA caused by cobalamin A or cobalamin B deficiencies is one type of methylmalonic acidemia. Children with this form of the condition have trouble producing cobalamin enzymes A and B. Cobalamin enzymes are necessary for the body to break down certain foods.

Methylmalonic Acidemia with homocystinuria Cbl C, D
Methylmalonic acidemia with homocystinuria (Cbl C, D, F) is one type of methylmalonic acidemia. Individuals with this form of methylmalonic acidemia have trouble producing certain cobalamin enzymes, which causes harmful levels of homocysteine and methylmalonic acid to build up in their bodies.

Maternal Vitamin B12 Deficiency
When undiagnosed, infant vitamin B12 deficiency can result in anemia, failure to thrive, developmental regression, and neurological deficits and is most commonly caused by maternal vitamin B12 deficiency. Biochemically, vitamin B12 deficiency leads to an accumulation of total homocysteine (tHcy), methylmalonic acid (MMA), and propionylcarnitine (C3). Although vitamin B12 deficiency is not a primary target of newborn screening (NBS) programs, measurement of C3 may incidentally identify vitamin B12–deficient newborns. However, first-tier screening is limited because C3 levels may not be sufficiently high during the first days of life when most NBS samples are collected.Levels of MMA and tHcy are more sensitive markers of vitamin B12 status than serum B12 levels in adults,3 have a strong inverse relationship with serum B12 levels,4 and are usually elevated in infants who are vitamin B12 deficient before hematologic or neurologic findings develop.

Mitochondrial Acetoacetyl-CoA Thiolase Deficiency (BKT)
Beta-ketothiolase deficiency (BKT) is an inherited condition in which the body is unable to break down certain proteins. People with the condition are also unable to produce ketone bodies, substances that help the body store energy. BKT is considered an organic acid condition because it can lead to a dangerous amount of organic acids and toxins in the body. Early detection and treatment can often prevent the severe outcomes of this condition.

Propionic Acidemia (PROP)
Propionic acidemia (PROP) is an inherited condition in which the body is unable to break down certain proteins and fats. It is considered an organic acid condition because it can lead to a harmful amount of organic acids and toxins in the body. If left untreated, it can cause brain defects or even death. However, if the condition is identified early in life and proper treatment is begun, children with PROP can minimize some of the early complications of the condition.

Multiple CoA Carboxylase Deficiency (MCD )
Holocarboxylase synthetase deficiency (MCD) is a condition in which the body is unable to break down proteins and carbohydrates. People with this condition have trouble using biotin, a vitamin that helps turn certain carbohydrates and proteins into energy for the body. Holocarboxylase synthetase deficiency is considered an organic acid condition because it can lead to a harmful buildup of organic acids and toxins in the body. Early detection and treatment often can prevent the severe outcomes of MCD.

Malonic Aciduria (MAL)
Malonic acidemia (MAL) is an inherited condition in which the body is unable to break down certain proteins. It is classified as an organic acid condition because MAL can lead to harmful levels of organic acids and toxins in the body. Signs and symptoms of the condition vary. However, early identification and treatment can improve the health of children with MAL.

Screened by Other Technologies

Congenital Hypothyroidism (CH):
Congenital Hypothyroidism also known as cretinism is caused by inadequate production of thyroid hormone in newborns due to partial or complete dysfunction of the thyroid gland.
The thyroid hormone, thyroxine is essential for the normal growth and development of the baby’s body & brain. Infants with Congenital Hypothyroidism have specific symptoms such as sluggishness, excessive sleeping, poor muscle tone, large tongue, small stature, low body temperature, hoarse cry, infrequent bowel movement & jaundice which usually go unnoticed. If not treated, it may lead to poor growth, & delayed development with low IQ.This condition can be detected through newborn screening by measuring the thyroxine hormone levels on the second or third day of baby’s birth.

G6PD Deficiency:
Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency is a common genetic condition affecting over 400 million people across the world. Due to the defect in the enzyme G6PD, the red blood cells (RBCs) in the blood are destroyed prematurely before the body could replace them. This condition can trigger jaundice that results in paleness, yellowing of the eyes & skin, shortness of breath, fatigue, & dark urine. Babies with G6PD deficiency do not show any symptoms until their RBCs are exposed to certain triggers such as bacterial or viral infection, certain painkillers, antibacterial & anti-malarial drugs. Once the trigger is removed, the symptoms disappear quickly within a few weeks of time. By newborn screening, G6PD deficiency can be detected & treated by keeping a check on the trigger that may cause hemolytic anemia.

Galactosemia:
Galactosemia is a rare inherited metabolic disorder also known as GALT deficiency. The Inborn error of Galactose metabolism is caused due to deficiency of Galactose-1-Phosphate uridyl transferase enzyme. People with GALT deficiency have difficulty in digesting galactose sugar from the food they eat which includes milk & milk related products. The early symptoms include poor growth and weight loss, diarrhea, vomiting, poor feeding, low blood sugar, tiredness, seizure, jaundice etc. Newborn babies begin to show the above health effects within few days of feeding breast milk or formula milk. To avoid permanent health defects like intellectual disability and growth defects, it is crucial to diagnose the condition through newborn screening. With early intervention & dietary changes such as avoiding galactose & lactose, the baby can have normal growth & development.

Biotinidase Deficiency:
Biotinidase Deficiency (BIOT) is an inherited metabolic condition caused by the low concentration or absence of Biotinidase enzyme. The enzyme is responsible for release of Vitamin Biotin (Vitamin-H) from the diet during digestion and making it available for the body to carry out metabolism of fats, proteins & carbohydrates. Biotin deficiency results in the presence of lactic acid in urine & also causes weak muscle tone, developmental delays, seizures, breathing difficulties, skin rash, hair loss, candidiasis etc. These symptoms are generally triggered by illness or infection in babies.With early detection through newborn screening, this condition can be treated in infants.

Congenital Adrenal Hyperplasia (CAH):
CAH is an inherited genetic condition causing swelling of the adrenal glands thereby limiting the production of hormones such as cortisol & aldosterone. The hormonal imbalance causes excessive secretion of male hormones in both male and female babies. Symptoms in female infants include unusually looking genital organs. The symptoms of male infants include enlarged penis, vomiting, weight loss, extreme tiredness, dehydration & illness within 1-2 weeks. Some may also experience signs of early puberty between 2-4 years of age. CAH can be detected early with newborn screening test. If treated properly the affected children can have a normal life without any health complications.

Cystic Fibrosis:
Cystic fibrosis is a genetic disorder that causes persistent lung infections and breathing difficulties due to thick, sticky mucus built-up in organs such as lungs & pancreas. It is a complex disease and the symptoms differ from one based on the age & severity of the condition. The general symptoms include salty-tasting skin, wheezing, persistent cough with phlegm, frequent lung infection leading to pneumonia or bronchitis, poor growth & weight loss. Early detection through newborn screening can lead to immediate intervention and treatment options which could help infants to experience improved cognitive function, weight, better respiratory function & increased life expectancy compared to untreated children.

Hemoglobinopathies
Hemoglobinopathies are inherited conditions that affect the number or shape of the red blood cells in the body. These conditions can be very different from one another. Some hemoglobinopathies can cause life-threatening symptoms, while others do not cause medical problems or even signs of the condition. Mild hemoglobinopathies may require no medical treatment. However, when severe cases are left untreated, they can cause a shortage of red blood cells (anemia), organ damage or even death. Fortunately, when severe hemoglobinopathies are identified and treated early in life, affected children often can lead healthy lives.

  • Beta thalassemia
  • Sickle Cell Anaemia (Hb SS)
  • Sickle Cell Disease (Hb S/C)
  • Variant hemoglobinopathies (C,D, H, bart band) including Hb E


How can we help you