3-METHYLGLUTACONIC ACIDURIA (TYPE V)

very rare (<1:200000) autosomal recessive mutation in the DNAJC19 gene has been identified in the Canadian Dariusleut Hutterite population

Mitochondrial import inner membrane translocase subunit TIM14

Question 1

What is  3-METHYLGLUTACONIC ACIDURIA (TYPE V)?

Accepted Answer

very rare (<1:200000)
autosomal recessive
mutation in the DNAJC19 gene
has been identified in the Canadian Dariusleut Hutterite population

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

3-Methylglutaconazidurie Typ 5

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 610198

Question 4

Which enzymes are involved?

Accepted Answer

Mitochondrial import inner membrane translocase subunit TIM14

Disease	3-METHYLGLUTACONIC ACIDURIA (TYPE V)
Synonym	DILATED CARDIOMYOPATHY WITH ATAXIA SYNDROME (DCMA)
OMIM	610198 OMIM = Online Mendelian Inheritance of Men
Orphanet	66634
Protein (UniProt)	Mitochondrial import inner membrane translocase subunit TIM14
Gene locus	3q26.33
ICD	E71.1
Summary	very rare (<1:200000) autosomal recessive mutation in the DNAJC19 gene has been identified in the Canadian Dariusleut Hutterite population
Laboratory findings	3-Methylglutaconic acid inc (urine) 3-Methylglutaric acid inc (urine) Transaminases (ASAT/ALAT) normal/inc (serum)
Symptoms	ataxia cardiac arrest cardiomyopathy cryptorchism early death failure to thrive growth retardation, poor growth hypospadia mental retardation muscle weakness onset, childhood onset, infancy optic atrophy seizures