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Newborn Screening ACT Sheet

[Elevated C5-DC Acylcarnitine]
Glutaryl-CoA Dehydrogenase Deficiency
Differential Diagnosis: Glutaric aciduria (GA-1)

Condition Description: GA-1 is caused by a defect of glutaryl-CoA dehydrogenase which limits the metabolism of glutaryl-CoA to crotonyl-CoA, resulting in increased glutaric acid or its metabolites that are toxic.

YOU SHOULD TAKE THE FOLLOWING ACTIONS:

  • Contact family IMMEDIATELY to inform them of the newborn screening result.
  • Consult with pediatric metabolic specialist.
  • Evaluate the newborn for macrocephaly and muscle hypotonia, initiate confirmatory/diagnostic testing as recommended by metabolic specialist.
  • Refer to metabolic specialist to be seen as soon as possible but not later than three weeks.
  • Educate family about diagnostic possibilities, complexity of diagnostic work-up and the possibility of neurodegenerative crisis with an intercurrent infectious illness.
  • IMMEDIATE treatment with IV glucose is needed for intercurrent infectious illness.
  • Report findings to newborn screening program.


Diagnostic Evaluation:

Urine organic acid analysis should be ordered promptly, and will be diagnostic if it shows increased 3-hydroxyglutaric acid with or without increased glutaric acid. If urine organic acids don’t confirm the diagnosis, the metabolic specialist will consider analyzing glutarylcarnitine in urine and 3-hydroxyglutaric acid in blood and CSF, enzyme assay in fibroblasts, and molecular analysis of the GCDH gene.

Clinical Considerations:

The neonate with glutaric acidemia type I is usually macrocephalic but otherwise asymptomatic. Later signs include metabolic ketoacidosis, failure to thrive, and sudden onset of dystonia and athetosis due to irreversible striatal damage. With appropriate treatment, 60-70% of patients will not suffer neurodegenerative disease.

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