MGA type I
MGA Type I MGA Type I, also known as Methylglutaconic Aciduria Type I, is a rare metabolic disorder characterized by the accumulation of methylglutaconic acid in the urine. This condition is part of a group of disorders known as organic acidurias, which involve the improper breakdown of amino acids and other compounds in the body.
Overview[edit | edit source]
MGA Type I is caused by a deficiency in the enzyme 3-methylglutaconyl-CoA hydratase, which is involved in the leucine degradation pathway. This enzyme deficiency leads to the accumulation of 3-methylglutaconic acid and other related compounds in the body, which can be detected in the urine.
Symptoms[edit | edit source]
The symptoms of MGA Type I can vary widely among affected individuals but often include:
- Developmental delay
- Hypotonia (reduced muscle tone)
- Metabolic acidosis
- Failure to thrive
Some individuals may also experience neurological symptoms, such as seizures or movement disorders.
Diagnosis[edit | edit source]
Diagnosis of MGA Type I typically involves:
- Urine organic acid analysis: This test detects elevated levels of methylglutaconic acid and other metabolites.
- Genetic testing: Identifying mutations in the AUH gene, which encodes the enzyme 3-methylglutaconyl-CoA hydratase.
Treatment[edit | edit source]
Currently, there is no cure for MGA Type I, and treatment focuses on managing symptoms and preventing metabolic crises. This may include:
- Dietary management to limit leucine intake
- Supplementation with carnitine
- Regular monitoring of metabolic status
Genetics[edit | edit source]
MGA Type I is inherited in an autosomal recessive pattern, meaning that both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene but typically do not show signs and symptoms of the condition.
Research and Future Directions[edit | edit source]
Research into MGA Type I is ongoing, with studies focusing on better understanding the biochemical pathways involved and developing potential therapies. Gene therapy and enzyme replacement therapy are areas of interest for future treatment options.
See Also[edit | edit source]
External Links[edit | edit source]
NIH genetic and rare disease info[edit source]
MGA type I is a rare disease.
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Contributors: Prab R. Tumpati, MD
