3 alpha methylglutaconic aciduria, type 3

3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency (3-HMG-CoA Lyase Deficiency), also known as 3-Alpha Methylglutaconic Aciduria, Type 3, is a rare inherited disorder affecting leucine metabolism. This metabolic condition is part of a group of diseases known as the organic acidurias. It is characterized by a deficiency of the enzyme 3-hydroxy-3-methylglutaryl-CoA lyase, which is crucial for ketogenesis and leucine degradation.

Symptoms and Signs

Patients with 3-Alpha Methylglutaconic Aciduria, Type 3, typically present in the neonatal period or early childhood with symptoms that can include vomiting, lethargy, hypoglycemia, metabolic acidosis, and hyperammonemia. If untreated, the condition can lead to severe metabolic crises, coma, and potentially death. Long-term complications may include developmental delay, muscle weakness, and hepatic dysfunction.

Genetics

This condition is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected. The gene involved in 3-Alpha Methylglutaconic Aciduria, Type 3, is located on a specific locus of the human genome but varies in mutation type, leading to the enzyme deficiency.

Diagnosis

Diagnosis of 3-Alpha Methylglutaconic Aciduria, Type 3, is typically made through a combination of clinical observation and biochemical testing. Elevated levels of 3-alpha-methylglutaconic acid in the urine are a key diagnostic marker. Genetic testing can confirm the diagnosis by identifying mutations in the relevant gene.

Treatment

There is no cure for 3-Alpha Methylglutaconic Aciduria, Type 3, but treatment is focused on managing symptoms and preventing metabolic crises. This may include a controlled diet low in leucine, supplementation with carnitine, and avoidance of fasting. In some cases, emergency treatment may be required to manage acute metabolic decompensation.

Prognosis

The prognosis for individuals with 3-Alpha Methylglutaconic Aciduria, Type 3, varies depending on the severity of the condition and the effectiveness of the management plan. Early diagnosis and treatment can improve the quality of life and reduce the risk of severe metabolic crises.

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