3-Methylglutaconic aciduria
3-Methylglutaconic aciduria
3-Methylglutaconic aciduria (pronounced as three-meth-ill-gloo-ta-con-ic acid-uria) is a group of autosomal recessive metabolic disorders characterized by an increased urinary excretion of 3-methylglutaconic acid and 3-methylglutaric acid.
Etymology
The term "3-Methylglutaconic aciduria" is derived from the name of the compound "3-Methylglutaconic acid" which accumulates in the urine (aciduria) of patients with this disorder.
Types
There are five types of 3-Methylglutaconic aciduria, each with different symptoms and genetic causes:
- Type I (MGCA1), also known as classic form, is caused by mutations in the AUH gene.
- Type II (MGCA2), also known as Barth syndrome, is caused by mutations in the TAZ gene.
- Type III (MGCA3), also known as Costeff optic atrophy syndrome, is caused by mutations in the OPA3 gene.
- Type IV (MGCA4), is a condition with unknown genetic cause.
- Type V (MGCA5), also known as dilated cardiomyopathy with ataxia (DCMA), is caused by mutations in the DNAJC19 gene.
Symptoms
Symptoms of 3-Methylglutaconic aciduria can vary widely depending on the type, but may include neurological problems, developmental delay, cardiomyopathy, optic atrophy, and ataxia.
Diagnosis
Diagnosis of 3-Methylglutaconic aciduria is typically made through urine tests showing increased levels of 3-methylglutaconic and 3-methylglutaric acids. Genetic testing can confirm the diagnosis and identify the specific type.
Treatment
Treatment for 3-Methylglutaconic aciduria is largely supportive and depends on the symptoms present in each individual. This may include physical therapy, speech therapy, and occupational therapy, as well as management of cardiac symptoms.
External links
- Medical encyclopedia article on 3-Methylglutaconic aciduria
- Wikipedia's article - 3-Methylglutaconic aciduria
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