MMAA

MMAA (Methylmalonic Aciduria type A) is a rare genetic disorder that affects the body's ability to metabolize certain proteins and fats. This disorder is characterized by episodes of metabolic acidosis, a condition in which the body's fluids contain too much acid.

Symptoms

The symptoms of MMAA can vary greatly from person to person. However, common symptoms include:

• Vomiting
• Dehydration
• Lethargy
• Failure to thrive
• Developmental delay
• Intellectual disability

Causes

MMAA is caused by mutations in the MMAA gene. This gene provides instructions for making a protein that is involved in the breakdown of certain amino acids, the building blocks of proteins. Mutations in the MMAA gene disrupt this process, leading to a buildup of a substance called methylmalonic acid in the body. This buildup can damage the body's cells and tissues, leading to the symptoms of MMAA.

Diagnosis

Diagnosis of MMAA typically involves a combination of genetic testing, blood tests, and urine tests. Genetic testing can identify mutations in the MMAA gene, while blood and urine tests can detect elevated levels of methylmalonic acid.

Treatment

There is currently no cure for MMAA. Treatment is focused on managing symptoms and preventing metabolic crises. This may involve a special diet low in certain amino acids, medications to reduce the levels of methylmalonic acid in the body, and in some cases, organ transplantation.

Prognosis

The prognosis for individuals with MMAA can vary greatly depending on the severity of the disorder and the individual's response to treatment. With early diagnosis and appropriate management, many individuals with MMAA can lead relatively normal lives.

See also

• Methylmalonic acidemia
• Inborn errors of metabolism
• Genetic disorder