3-Methylglutaconic Aciduria, Type V; MGCA5

What is 3-Methylglutaconic Aciduria, Type V; MGCA5?

3-Methylglutaconic Aciduria, Type V; MGCA5 is a rare disease. It is also known as Barth-like syndrome - Canadian Hutterite type Cardiomyopathy, Dilated, With Ataxia; Dcma Mga, Type V; Mga5.

Eleven patients from the Canadian Dariusleut Hutterite population were reported with a Barth-like syndrome ( Davey et al., 2006). The clinical picture included an onset of a dilated cardiomyopathy before the age of 3 years and over 70% died of cardac disease. A long QT segment was frequent as was prenatal or postnatal growth failure, All thoseover the age of 2 years were ataxic. Male genital problems included cryptorchidism, hypospadias and testicular dysgenesis. THe testes were small and there was an incomplete response to HCG stimulation. Additional features included optic atrophy, hepatic dysfunction, a normochromic microcytic anemia and mild to borderline mental retardation. Many showed increase excretion of 3-methylglutaconic and 3-methylglutaric acids. The condition mapped to 3q26 and mutations were found in DNAJC19.(there might be a defective mitochondrial protein import).

Ucar et al. (2016) described a male patient from a consanguineous family with 3-methylglutaconic aciduria and a novel homozygous protein truncating mutation in the DNACJ19 gene. Clinical characteristics included IUGR, dilated cardiomyopathy, intellectual disability, sensorineural hearing loss, hypotonia, spasticity of the lower limbs, hyperkinetic involuntary movements, testicular dysgenesis, liver dysfunction, and microcytic hypochromic anemia. Dysmorphic features were prominent forehead, thick and diffuse eyebrows, long curly eyelashes, short palpebral fissures with upper eyelid retraction, large, low set, protruding ears, thin nose and hypertrichosis. Brain MRI showed bilateral hyperintensities on T2 in the basal ganglia and reduced cerebellar volume. Muscular respiratory chain enzyme measures showed significantly decreased cytochrome C oxidase activity.

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* This information is courtesy of the L M D.

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What gene changes cause 3-Methylglutaconic Aciduria, Type V; MGCA5?

The syndrome is inherited in the following inheritance pattern/s:

Autosomal Recessive - Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms but have a 25% chance of passing the copies of the gene mutations onto each of their children.

In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.

OMIM Number - 610198 (please check the OMIM page for updated information)

The syndrome can be caused by mutations in the following gene/s location/s:
DNAJC19 - 3q26.33

What are the main symptoms of 3-Methylglutaconic Aciduria, Type V; MGCA5?

The typical symptoms of the syndrome are:
Sudden cardiac death, Prolonged QT interval, Normochromic microcytic anemia, Noncompaction cardiomyopathy, Decreased testicular size, Congestive heart failure, Cryptorchidism, Dilated cardiomyopathy, 3-Methylglutaric aciduria, Intellectual disability, Intrauterine growth retardation, Muscle weakness, Microvesicular hepatic steatosis, Hypospadias, Glutaric aciduria, Postnatal growth retardation, Autosomal recessive inheritance, Optic atrophy, Nonprogressive cerebellar ataxia

How does someone get tested for 3-Methylglutaconic Aciduria, Type V; MGCA5?

The initial testing for 3-Methylglutaconic Aciduria, Type V; MGCA5 can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.

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