maitohappoasidoosi

Maitohappoasidoosi, also known as malic aciduria, is a rare genetic disorder characterized by the accumulation of malic acid in the body. Malic acid is a four-carbon organic acid that plays a role in the citric acid cycle, a key metabolic pathway in cells. In maitohappoasidoosi, the body is unable to properly metabolize malic acid, leading to its buildup in various tissues, including the brain, liver, and muscles.

The disorder is typically 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 exact cause of maitohappoasidoosi varies, but it is often due to mutations in the genes that encode for enzymes involved in the metabolism of malic acid, such as malic enzyme or fumarase.

Symptoms of maitohappoasidoosi can vary widely and may include developmental delays, seizures, muscle weakness, and liver dysfunction. The severity of symptoms can also vary depending on the specific mutation and the amount of malic acid that accumulates in the body. Diagnosis is typically made through genetic testing and analysis of the patient's metabolic profile.

There is currently no cure for maitohappoasidoosi, but treatment options may include dietary modifications, such as restricting the intake of foods that contain malic acid, and medications to manage symptoms. In some cases, liver transplantation may be necessary to alleviate symptoms and improve quality of life. Research into the underlying mechanisms of maitohappoasidoosi and the development of new therapeutic strategies is ongoing.