3-Methylglutaconic aciduria

3-Methylglutaconic aciduria is a group of autosomal recessive metabolic disorders which are characterized by the increased urinary excretion of 3-methylglutaconic acid and 3-methylglutaric acid.

Types

There are five types of 3-Methylglutaconic aciduria, each with its own unique symptoms and causes.

• Type I - Also known as 3-Methylglutaconic aciduria type I, this is the most common type. It is caused by mutations in the AUH gene and is characterized by symptoms such as developmental delay, dystonia, and spasticity.

• Type II - Also known as Barth syndrome, this type is caused by mutations in the TAZ gene. Symptoms include cardiomyopathy, neutropenia, and muscle weakness.

• Type III - Also known as Costeff optic atrophy syndrome, this type is caused by mutations in the OPA3 gene. Symptoms include optic atrophy, spastic paraplegia, and extrapyramidal dysfunction.

• Type IV - Also known as 3-Methylglutaconic aciduria type IV, this type is characterized by symptoms such as hypoglycemia, metabolic acidosis, and hyperammonemia.

• Type V - Also known as 3-Methylglutaconic aciduria type V, this type is characterized by symptoms such as psychomotor retardation, hypotonia, and seizures.

Diagnosis

Diagnosis of 3-Methylglutaconic aciduria is typically made through urine tests which can detect elevated levels of 3-methylglutaconic acid and 3-methylglutaric acid. Genetic testing can also be used to confirm the diagnosis and identify the specific type of 3-Methylglutaconic aciduria.

Treatment

Treatment for 3-Methylglutaconic aciduria is largely supportive and depends on the specific symptoms and type of the disorder. This may include physical therapy for muscle weakness, medication for seizures, and dietary management to control metabolic acidosis.

See also

• Metabolic disorder
• Autosomal recessive
• Genetic testing

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