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Article

3-methylglutaconic aciduria type I in a boy with fever-associated seizures.

Pediatric neurology - 1 Mar 2004

Illsinger Sabine, Lücke Thomas, Zschocke Johannes, Gibson Kenneth M, Das Anibh M

Abstract excerpt

3-Methylglutaconic-aciduria type I (MGA1, OMIM 250950) resulting from 3-Methylglutaconyl-coenzyme A hydratase deficiency is a rare inherited metabolic disorder of l-leucine catabolism. We diagnosed this condition in a 4-year-old German male with generalized fever-associated seizures from the age of 12 months and normal psychomotor development. First he was considered to suffer from uncomplicated febrile seizures....

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Source

Identifiers

PMID: 15033206
DOI: 10.1016/j.pediatrneurol.2003.09.016

Genes

AUH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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