Homocystinuria without methylmalonic aciduria

MONDO:0018964

Homocystinuria without methylmalonic aciduria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, encephalopathy and, sometimes, developmental delay, and associated with homocystinuria and hyperhomocysteinemia. There are three types of homocystinuria without methylmalonic aciduria; cblE, cblG and cblD-variant 1 (cblDv1).

Also known as: functional methionine synthase deficiency, homocystinuria without methylmalonic aciduria, methylcobalamin deficiency

23 clinical trials for this condition and its sub-types, 0 tagged with Homocystinuria without methylmalonic aciduria itself.

Follow this condition to get notified about new trials

Where it sits in the disease tree

Browse by category →

Part of

↑ Autosomal recessive disease (999) ↑ Hereditary anemia (13) ↑ Homocystinuria (11) ↑ Inborn disorder of cobalamin metabolism and transport (3)

Sub-types of Homocystinuria without methylmalonic aciduria

Methylcobalamin deficiency type cblE 2 trials
Methylcobalamin deficiency type cblG 2 trials
Homocystinuria-megaloblastic anemia cblD type 0 trials
Methylcobalamin deficiency type cblDv1 0 trials

Including sub-types (23) Tagged with Homocystinuria without methylmalonic aciduria (0)

We haven't found any trials for this condition yet. Follow it to get notified when new trials appear.