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Up to: Autosomal recessive disease · Hereditary anemia · Homocystinuria · Inborn disorder of cobalamin metabolism and transport
Homocystinuria without methylmalonic aciduria
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).
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Methylcobalamin deficiency type cblE 2 trials
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Methylcobalamin deficiency type cblG 2 trials