2. Academic Validation
  3. Diagnosis of a patient with a kinetic variant of medium and short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency by newborn screening

Diagnosis of a patient with a kinetic variant of medium and short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency by newborn screening

  • Mol Genet Metab. 2012 Jul;106(3):277-80. doi: 10.1016/j.ymgme.2012.04.005.
Laura Vilarinho 1,  Jorge Sales Marques,  Hugo Rocha,  Altina Ramos,  Lurdes Lopes,  Srinivas B Narayan,  Michael J Bennett
Affiliations

Affiliation

  • 1 Newborn Screening Unit, National Institute of Health, Porto, Portugal. laura.vilarinho@insa.min-saude.pt
PMID: 22579592 DOI: 10.1016/j.ymgme.2012.04.005
Abstract

Medium and short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency is a rare cause of impaired mitochondrial fatty acid oxidation. We present a case report of a patient with hyperinsulinism and homozygosity for a novel mutation causing a kinetic variant of the Enzyme. The diagnosis was initially inferred by abnormal Newborn Screening acylcarnitine analysis with elevated C4-hydroxyacylcarnitine.

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