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Newborn Screening ACT Sheet

[Elevated C5-OH Acylcarnitine]
Organic Acidemias
Differential Diagnosis: Each of the disorders is caused by a deficiency of the relevant enzyme. In most of the disorders, the substrate, for which the enzyme is named, accumulates as do its potentially toxic metabolites.

Condition Description: Each of the disorders is caused by a deficiency of the relevant enzyme. In most of the disorders, the substrate, for which the enzyme is named, accumulates as do its potentially toxic metabolites.

YOU SHOULD TAKE THE FOLLOWING ACTIONS:

  • Contact family to inform them of the newborn screening result and ascertain clinical status (poor feeding, vomiting, lethargy).
  • Consult with pediatric metabolic specialist.
  • Evaluate the newborn (hypoglycemia, ketonuria, metabolic acidosis). If any of these parameters are abnormal or the infant is ill, initiate emergency treatment as indicated by metabolic specialist and transport IMMEDIATELY to tertiary center with metabolic specialist.
  • Initiate timely confirmatory/diagnostic testing as recommended by specialist.
  • Educate family about signs, symptoms and need for urgent treatment of metabolic acidosis (poor feeding, vomiting, lethargy).
  • Report findings to newborn screening program.


Diagnostic Evaluation:

Confirmatory tests include urine organic acids on infant and mother, plasma acylcarnitine analysis, and serum biotinidase assay. The organic acids analysis on infant and mother should clarify the differential except for holocarboxylase synthetase deficiency and biotinidase deficiency (the latter clarified by biotinidase assay).

Clinical Considerations:

The neonate is usually asymptomatic in 3MCC deficiency. However, episodic hypoglycemia, lethargy, hypotonia, and mild developmental delay can occur at any time from the neonatal period through childhood for any of these disorders. There is beneficial treatment that is specific to each condition.

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