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Methylmalonic acidemia

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.

7 trials tagged with this condition →

Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 4 trials Sub-types →
Methylmalonic aciduria and homocystinuria 1 trial · 3 incl. sub-types Sub-types →
Vitamin B12-responsive methylmalonic acidemia 0 trials · 2 incl. sub-types Sub-types →
Combined malonic and methylmalonic acidemia 0 trials
Isolated methylmalonic aciduria cblD type 0 trials
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency 0 trials
Methylmalonic acidemia due to transcobalamin receptor defect 0 trials