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Article

Phenotypic heterogeneity in two siblings with 3-methylglutaconic aciduria type I caused by a novel intragenic deletion.

Molecular genetics and metabolism - 1 Nov 2011

Mercimek-Mahmutoglu Saadet, Tucker Tracy, Casey Brett

Abstract excerpt

We describe two siblings with 3-methylglutaconic aciduria type I with phenotypic heterogeneity. The index case was a 14-year-old female with learning disability, attention deficit-hyperactivity and early onset subclinical leukoencephalopathy. Her 9-year-old brother had severe expressive speech delay and delay in speech sound development with normal cognitive functions. The diagnosis was confirmed by a...

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Identifiers

PMID: 21840233
DOI: 10.1016/j.ymgme.2011.07.021

Genes

AUH

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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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