Metabolic stroke in isolated 3-methylcrotonyl-CoA carboxylase deficiency

Eur J Pediatr. 1999 Sep;158(9):730-3. doi: 10.1007/s004310051189.

Abstract

A mildly retarded infant with failure to thrive developed hypoglycaemia, focal seizures, respiratory failure and hemiparesis during a febrile episode at the age of 16 months. A brain scan was initially normal and showed hemilateral focal edema and gliosis at later stages. 3-Methylcrotonyl-CoA carboxylase deficiency was suggested by elevated urinary excretion of 3-hydroxyisovaleric acid and 3-methylcrotonylglycine, and confirmed by enzyme assays. The patient was treated with protein restriction and carnitine and remained stable during the following 5 years. Hemiparesis and some developmental delay persisted. In acute focal brain disease, metabolic disorders must be considered. 3-Methylcrotonyl-CoA carboxylase deficiency adds to the list of possible causes of "metabolic stroke".

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / complications*
  • Amino Acid Metabolism, Inborn Errors / diet therapy
  • Carbon-Carbon Ligases / deficiency*
  • Carnitine / administration & dosage
  • Diet, Protein-Restricted
  • Failure to Thrive / metabolism
  • Female
  • Gliosis / etiology
  • Hemiplegia / etiology*
  • Humans
  • Infant
  • Intellectual Disability / etiology
  • Leucine / administration & dosage
  • Leucine / metabolism*
  • Seizures / etiology

Substances

  • Carbon-Carbon Ligases
  • methylcrotonoyl-CoA carboxylase
  • Leucine
  • Carnitine