Methylmalonic acidemia (cblA)

Methylmalonic acidemia is an inherited disorder in which the body is unable to process certain proteins and fats (lipids) properly.

Signs and Symptoms
Effects of the disorder, which normally arise during infancy, range from mild to life threatening. Symptoms include vomiting, dehydration, weak muscle tone, developmental delay, lethargy, enlarged liver, failure to thrive. Long-term complications can lead to intellectual disability, kidney disease, and pancreatitis and can lead to coma or death. This disorder may also arise due to mutations in the MCEE, MUT, MMAB, and MMADHC genes.


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