Methylmalonic acidemia
MONDO:0002012A 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, METHYLMALONICACIDURIA due to methylmalonic CoA mutase deficiency, METHYLMALONICACIDURIA, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin--Cbl A, METHYLMALONICACIDURIA, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin--Cbl B, methylmalonic acidemia, cblA type, methylmalonic acidemia, cblB type, methylmalonic aciduria cblB type, methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
8 clinical trials for this condition and its sub-types, 7 tagged with Methylmalonic acidemia itself.
Follow this condition to get notified about new trialsWhere it sits in the disease tree
Browse by category →Part of
Sub-types of Methylmalonic acidemia
-
2 sub-types
-
Methylmalonic aciduria and homocystinuria 1 trial · 3 incl. sub-types
6 sub-types
- Methylmalonic aciduria and homocystinuria type cblC 3 trials
- Methylmalonic aciduria and homocystinuria type cblD 2 trials
- Methylmalonic acidemia with homocystinuria, type cblJ 1 trial
- Methylmalonic aciduria and homocystinuria type cblF 1 trial
- Methylmalonic acidemia with homocystinuria, type cblX 0 trials
- Methylmalonic aciduria and homocystinuria, cb1L type 0 trials
-
Vitamin B12-responsive methylmalonic acidemia 0 trials · 2 incl. sub-types
3 sub-types