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Article

3-Methylcrotonyl-CoA carboxylase deficiency: phenotypic variability in a family.

Journal of child neurology - 1 Apr 2009

Eminoglu F Tuba, Ozcelik Aysima A, Okur Ilyas, Tumer Leyla, Biberoglu Gursel, Demir Ercan, Hasanoglu Alev, Baumgartner Matthias R

Abstract excerpt

A family with 3-methylcrotonyl-CoA carboxylase deficiency with different clinical features is described. A 15-month-old boy, who was the index patient, was admitted to the hospital with atonic seizure. His brother had delayed language development and their uncle had been followed with diagnosis of epilepsy for the last 5 years. Urinary organic acid analysis displayed elevated 3-hydroxyisovaleric acid and...

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Identifiers

PMID: 19339287
DOI: 10.1177/0883073808324536

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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