Methylmalonic acidemia
ICD-10 Code
E71.120
Methylmalonic acidemia
Definition
A genetically heterogenous inherited disorder characterized by abnormalities in the metabolism of lipids and proteins. Signs and symptoms usually appear early in life and vary from mild to life threatening. They include vomiting, dehydration, hypotonia, developmental delays, hepatomegaly, lethargy, intellectual disabilities, and chronic kidney disease.
Also known as methylmalonic aciduria — per MONDO