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

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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Bibliographische Detailangaben
Veröffentlicht in:	Journal of Pediatric Endocrinology and Metabolism 2013, Vol.26 (1-2), p.151-154
Hauptverfasser:	Stojanović, Vesna, Doronjski, Aleksandra
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - diagnosis Abnormalities, Multiple - genetics Child, Preschool Humans Male Membrane Proteins - genetics Metabolism, Inborn Errors - diagnosis Metabolism, Inborn Errors - genetics Mitochondrial Proteins - genetics Mutation - physiology Phenotype Severity of Illness Index
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Beschreibung
Zusammenfassung:	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.
ISSN:	0334-018X 2191-0251
DOI:	10.1515/jpem-2012-0291