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Article

Early infantile presentation of 3-methylglutaconic aciduria type 1 with a novel mutation in AUH gene: A case report and literature review.

Brain & development - 1 Sept 2017

Tavasoli Ali Reza, Shervin Badv Reza, Zschocke Johannes, Ashrafi Mahmood Reza, Rostami Parastoo

Abstract excerpt

3-Methylglutaconic aciduria is a member of inborn errors of leucine metabolism pathway. 3-Methylglutaconic aciduria type I (MGA1) causes neurological problems which are present during infancy or childhood but the diagnosis may be delayed until adulthood. Here we report a 3years old patient with developmental delay from a relative parent's that his medical evaluations include analyses of urinary organic acid and...

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Source

Identifiers

PMID: 28438368
DOI: 10.1016/j.braindev.2017.04.007

Genes

AUH

Variants

Provenance

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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