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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
3-Methylglutaconic aciduria Resources | ||
---|---|---|
|
|
Translate to: East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
Urdu,
বাংলা,
తెలుగు,
தமிழ்,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
European
español,
Deutsch,
français,
русский,
português do Brasil,
Italian,
polski
Navigation: Wellness - Encyclopedia - Health topics - Disease Index - Drugs - World Directory - Gray's Anatomy - Keto diet - Recipes
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro) available.
Advertise on WikiMD
WikiMD is not a substitute for professional medical advice. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.Contributors: Admin, Prab R. Tumpati, MD