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Early Infantile Presentation of 3-Methylglutaconic Aciduria Type 1 With a Novel Mutation in Auh Gene: A Case Report and Literature Review Publisher Pubmed



Tavasoli AR1 ; Shervin Badv R1 ; Zschocke J2 ; Ashrafi MR1 ; Rostami P3
Authors

Source: Brain and Development Published:2017


Abstract

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 3 years old patient with developmental delay from a relative parent's that his medical evaluations include analyses of urinary organic acid and blood acylcarnitine showed high level of 3-methylglutacoic acid, 3-hydroxyisovaleric acid and increased level of 3-hydroxyisovalerylcarnitine respectively. Further evaluation and genetic tests revealed a novel homozygous mutation of variant c.179del G (p.Gly60Valfs*12) in exon 1 of the AUH gene that was compatible with the diagnosis of MGA1. In segregation analysis of his family, both parents were heterozygous for the respective mutation, confirming obligate parental carrier status and segregation of the mutation. © 2017 The Japanese Society of Child Neurology
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