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

73 clinical trials for this condition and its sub-types.

Follow this condition — get notified about new trials

Sub-types

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

Broader categories

Disease (618) Metabolic disease (215) Nutritional deficiency disease (206) Anemia (203) Hereditary disease (172) Hematologic disorder (160) Nutritional disorder (116) Inborn errors of metabolism (42) Human disease (14) Vitamin B12 deficiency (10)

Trials to join now! 35 Not yet recruiting 6 Not yet finished but already full! 10 Completed 21 Terminated 1

Can extra care after transplant help older patients live better?

Disease control Terminated

This study tested two extra care programs—supportive palliative care and clinical management of other health issues—for older or frail patients who had a donor stem cell transplant. The goal was to see if these programs could improve quality of life and survival compared to stand…

Phase: PHASE2, PHASE3 • Sponsor: Fred Hutchinson Cancer Center • Aim: Disease control

Last updated Jun 27, 2026 08:10 UTC

Homocystinuria without methylmalonic aciduria

Sub-types

Broader categories

Can extra care after transplant help older patients live better?