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

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

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1. Pediatric Neurology Division, Neurometabolic Registry Center, Children's Medical Center, Tehran University of Medical Science, Tehran, Iran
2. Division of Human Genetics, Medical University Innsbruck, Innsbruck, 6020, Austria
3. Division of Endocrinology and Metabolism, Department of Pediatrics, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran

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

Style	Citing Format
MLA	Tavasoli AR, et al.. "Early Infantile Presentation of 3-Methylglutaconic Aciduria Type 1 With a Novel Mutation in Auh Gene: A Case Report and Literature Review." Brain and Development, vol. 39, no. 8, 2017, pp. 714-716.
APA	Tavasoli AR, Shervin Badv R, Zschocke J, Ashrafi MR, Rostami P (2017). Early Infantile Presentation of 3-Methylglutaconic Aciduria Type 1 With a Novel Mutation in Auh Gene: A Case Report and Literature Review. Brain and Development, 39(8), 714-716.
Chicago	Tavasoli AR, Shervin Badv R, Zschocke J, Ashrafi MR, Rostami P. "Early Infantile Presentation of 3-Methylglutaconic Aciduria Type 1 With a Novel Mutation in Auh Gene: A Case Report and Literature Review." Brain and Development 39, no. 8 (2017): 714-716.
Harvard	Tavasoli AR et al. (2017) 'Early Infantile Presentation of 3-Methylglutaconic Aciduria Type 1 With a Novel Mutation in Auh Gene: A Case Report and Literature Review', Brain and Development, 39(8), pp. 714-716.
Vancouver	Tavasoli AR, Shervin Badv R, Zschocke J, Ashrafi MR, Rostami P. Early Infantile Presentation of 3-Methylglutaconic Aciduria Type 1 With a Novel Mutation in Auh Gene: A Case Report and Literature Review. Brain and Development. 2017;39(8):714-716.
BibTex	@article{ author = {Tavasoli AR and Shervin Badv R and Zschocke J and Ashrafi MR and Rostami P}, title = {Early Infantile Presentation of 3-Methylglutaconic Aciduria Type 1 With a Novel Mutation in Auh Gene: A Case Report and Literature Review}, journal = {Brain and Development}, volume = {39}, number = {8}, pages = {714-716}, year = {2017} }
RIS	TY - JOUR AU - Tavasoli AR AU - Shervin Badv R AU - Zschocke J AU - Ashrafi MR AU - Rostami P TI - Early Infantile Presentation of 3-Methylglutaconic Aciduria Type 1 With a Novel Mutation in Auh Gene: A Case Report and Literature Review JO - Brain and Development VL - 39 IS - 8 SP - 714 EP - 716 PY - 2017 ER -

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