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Newborn Screening ACT Sheet

[Elevated C4-OH Acylcarnitine]
3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency Medium/Short Chain Acyl-CoA Dehydrogenase (M/SCHAD) Deficiency

Differential Diagnosis: Medium/Short-chain hydroxyacyl-CoA dehydrogenase (M/SCHAD) deficiency.

Condition Description: M/SCHAD is a fatty acid oxidation (FAO) disorder. Fatty acid oxidation occurs during prolonged fasting and/or periods of increased energy demands (fever, stress) when energy production relies increasingly on fat metabolism. In an FAO disorder, fatty acids and potentially toxic derivatives accumulate because of a deficiency in one of the FAO enzymes.

YOU SHOULD TAKE THE FOLLOWING ACTIONS:

  • Contact family IMMEDIATELY to inform them of the newborn screening result and ascertain clinical status (poor feeding, vomiting, lethargy).
  • Consultation with pediatric metabolic specialist.
  • Evaluate infant (hypoglycemia, lethargy, metabolic acidosis).
  • Emergency treatment if symptomatic.
  • Initiate timely confirmatory/diagnostic testing as recommended by specialist.
  • Educate family about need for infant to avoid fasting. If infant becomes even mildly ill (poor feeding, vomiting, or lethargy), immediate treatment with IV glucose is needed.
  • Report finding to newborn screening program.


Diagnostic Evaluation:

Plasma acylcarnitines will show increased C4-OH acylcarnitine. Urine organic acids will show increased hydroxy-dicarboxylic acids. Plasma insulin may be elevated. M/SCHAD gene sequencing can confirm the diagnosis.

Clinical Considerations:

The neonate is usually asymptomatic, although hypoglycemia and hyperinsulinism may be present. Severe hypoglycemia and severe hyperinsulinism may appear later. Sudden death in infancy has been reported.

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