Methylmalonic acidemia

Methylmalonic acidemia is a genetic disorder that affects the body's ability to metabolize certain proteins and fats. This condition is characterized by episodes of metabolic acidosis, a buildup of methylmalonic acid in the body.

Symptoms[edit | edit source]

Symptoms of methylmalonic acidemia can vary widely among affected individuals. They typically appear in early infancy and can include vomiting, dehydration, hypotonia (weak muscle tone), developmental delay, intellectual disability, and failure to thrive. In severe cases, complications such as kidney disease, pancreatitis, and infections can occur.

Causes[edit | edit source]

Methylmalonic acidemia is caused by mutations in the MUT, MMAA, MMAB, or MMADHC genes. These genes provide instructions for making proteins that are involved in the breakdown of certain amino acids in the body. Mutations in these genes disrupt this process, leading to a buildup of methylmalonic acid in the body.

Diagnosis[edit | edit source]

Diagnosis of methylmalonic acidemia is typically made through genetic testing, which can identify mutations in the genes associated with this condition. Other tests, such as blood tests and urine tests, can also be used to measure the levels of methylmalonic acid in the body.

Treatment[edit | edit source]

Treatment for methylmalonic acidemia typically involves a low-protein diet to reduce the amount of methylmalonic acid in the body. In some cases, vitamin B12 supplements may also be used. In severe cases, a kidney transplant or liver transplant may be necessary.

References[edit | edit source]

Methylmalonic acidemia Resources
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