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Diseases
COFACTOR AND MINERAL METABOLISM
21 Disorders of vitamin and cofactor metabolism
21.9 Disorders of cobalamin metabolism
21.9.2 Disorders of intracellular cobalamin metabolism
Methylmalonic aciduria and homocystinuria, cblF type
Methylmalonic aciduria and homocystinuria, cblJ type
Methylmalonic aciduria and homocystinuria, cblC type
Methylmalonic aciduria and homocystinuria, cblD type
Methylmalonic aciduria, cblA type
Methylmalonic aciduria, cblB type
Methionine synthase reductase deficiency
Genes
Gene products
Pathways
Multimers
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Diseases
COFACTOR AND MINERAL METABOLISM
21 Disorders of vitamin and cofactor metabolism
21.9 Disorders of cobalamin metabolism
21.9.2 Disorders of intracellular cobalamin metabolism
Methylmalonic aciduria and homocystinuria, cblF type
Methylmalonic aciduria and homocystinuria, cblJ type
Methylmalonic aciduria and homocystinuria, cblC type
Methylmalonic aciduria and homocystinuria, cblD type
Methylmalonic aciduria, cblA type
Methylmalonic aciduria, cblB type
Methionine synthase reductase deficiency
Genes
Gene products
Pathways
Multimers
More information
About Online IMD
Methylmalonic aciduria and homocystinuria, cblJ type
(CblJ disease)
Type
Disease
External link(s)
Orphanet
IEMbase
Gene
ABCD4
/ ABCD4 (ATP Binding Cassette Subfamily D Member 4)
14q24.3
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
ATP-binding cassette sub-family D member 4
Disease group(s)
21.9.2 Disorders of intracellular cobalamin metabolism