3-methylglutaconic aciduria type 5

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Description from OMIM

3-Methylglutaconic aciduria type V is an autosomal recessive disorder characterized by the onset of dilated or noncompaction cardiomyopathy in infancy or early childhood. Many patients die of cardiac failure. Other features include microcytic anemia, growth retardation, mild ataxia, mild muscle weakness, genital anomalies in males, and increased urinary excretion of 3-methylglutaconic acid. Some patients may have optic atrophy or delayed psychomotor development (summary by Davey et al., 2006 and Ojala et al., 2012). For a discussion of genetic heterogeneity of 3-methylglutaconic aciduria, see MGCA type I (250950).

Prevalence of clinical parameters (%)

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Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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List of symptoms

Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Failure to thrive multi 100 % 16055927 2014-01-15
Short stature skeletal 100 % 16055927 2014-01-15
3-methylglutaconic aciduria urinary 100 % 16055927 2014-01-15
3-methylglutaric aciduria urinary 100 % 16055927 2014-01-15
Testicular dysgenesis reproductive 82 % 16055927 2014-01-15
Dilated cardiomyopathy circulatory 70 % 16055927 2014-01-15
Anemia circulatory 66 % 16055927 2014-01-15
Ataxia nervous 56 % 16055927 2014-01-15
Mental retardation nervous 56 % 16055927 2014-01-15
Developmental delay nervous 56 % 16055927 2014-01-15
Increased blood transaminase digestive 44 % 16055927 2014-01-15
Long QT circulatory 33 % 16055927 2014-01-15
Steatosis digestive 28 % 16055927 2014-01-15
Optic atrophy nervous 22 % 16055927 2014-01-15
Seizures nervous 11 % 16055927 2014-01-15

List of references:

Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition.
K M Davey, J S Parboosingh, D R McLeod, A Chan, R Casey, P Ferreira, F F Snyder, P J Bridge, F P Bernier,

A novel autosomal recessive condition, dilated cardiomyopathy with ataxia (DCMA) syndrome, has been identified in the Canadian Dariusleut Hutterite population, characterised by early onset dilated cardiomyopathy with conduction defects, non-progressive cerebellar ataxia, testicular dysgenesis, growth failure, and 3-methylglutaconic aciduria.

Journal of medical genetics - May 2006