Defective ABCD4 causes methylmalonic aciduria and homocystinuria, cblj type (MAHCJ)

Stable Identifier
R-HSA-5683329
Type
Pathway
Species
Homo sapiens
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ATP-binding cassette sub-family D member 4 (ABCD4) is thought to mediate the lysosomal export of cobalamin (Cbl aka vitamin B12) into the cytosol, making it available for the production of Cbl cofactors. Cbl is an important cofactor for correct haematological and neurological functions. Defects in ABCD4 can cause methylmalonic aciduria and homocystinuria, cblJ type (MAHCJ; MIM:614857), a genetically heterogeneous metabolic disorder of Cbl metabolism characterised by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). Clinically, symptoms include feeding difficulties, poor growth, hypotonia, lethargy, anaemia and delayed development (Coelho et al. 2012).

Literature References
PubMed ID Title Journal Year
22922874 Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism

Coelho, D, Kim, JC, Miousse, IR, Fung, S, du Moulin, M, Buers, I, Suormala, T, Burda, P, Frapolli, M, Stucki, M, Nürnberg, P, Thiele, H, Robenek, H, Höhne, W, Longo, N, Pasquali, M, Mengel, E, Watkins, D, Shoubridge, EA, Majewski, J, Rosenblatt, DS, Fowler, B, Rutsch, F, Baumgartner, MR

Nat. Genet. 2012
Participants
Participant Of
Disease
Name Identifier Synonyms
homocystinuria 9263 cystathionine beta synthase deficiency, cystathionine synthase deficiency, Homocystinuria (disorder), CBS deficiency
methylmalonic acidemia 14749 METHYLMALONICACIDURIA DUE TO METHYLMALONIC CoA MUTASE deficiency, METHYLMALONIC ACIDURIA, mut TYPE, METHYLMALONIC ACIDEMIA, cblB TYPE, methylmalonic aciduria mut type, METHYLMALONICACIDURIA, vitamin B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN--cbl B, methylmalonic aciduria cblB type, METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN, cblA TYPE, methylmalonic aciduria, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN, cblB TYPE, METHYLMALONIC ACIDEMIA, cblA TYPE, METHYLMALONICACIDURIA, vitamin B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN--cbl A
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