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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.

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