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Article

Mild form of 3-methylglutaconic aciduria type IV and mutation in the TMEM70 genes.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Jan 2013

Stojanović Vesna, Doronjski Aleksandra

Abstract excerpt

The case study presents a 3-year-old boy diagnosed with a mild form of 3-methylglutaconic aciduria. During infancy and early childhood, he had lactic acidosis, dilated cardiomyopathy and failure to thrive with growth retardation. A genetic analysis revealed a mutated TMEM70 gene.

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Source

Identifiers

PMID: 23382305
DOI: 10.1515/jpem-2012-0291

Genes

TMEM70

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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