Rare Disease Library

Transcobalamin deficiency

Inherited deficiency of transcobalamin · Transcobalamin II deficiency

Acrodermatitis enteropathica

AEZ · Inherited zinc deficiency

Congenital brain dysgenesis due to glutamine synthetase deficiency

Inherited GS deficiency · Inherited glutamine synthetase deficiency

Corticosteroid-binding globulin deficiency

Transcortin deficiency

Gamma-aminobutyric acid transaminase deficiency

GABA transaminase deficiency

Homocystinuria without methylmalonic aciduria

Functional methionine synthase deficiency · Methylcobalamin deficiency

Methylcobalamin deficiency type cblE

Functional methionine synthase deficiency type cblE

Methylcobalamin deficiency type cblG

Functional methionine synthase deficiency type cblG

Methylmalonic acidemia with homocystinuria type cblF

CblF defect · Cobalamin F defect

Transcobalamin I deficiency

Haptocorrin deficiency · TCI deficiency

Vitamin B12-responsive methylmalonic acidemia

Adenosylcobalamin deficiency · Vitamin B12-responsive methylmalonic aciduria