Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC

Stable Identifier
R-HSA-3359474
Type
Pathway
Species
Homo sapiens
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Defects in MMACHC cause methylmalonic aciduria and homocystinuria type cblC (MMAHCC; MIM:277400). MMAHCC is the most common disorder of cobalamin metabolism and is characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). Affected individuals may have developmental, haematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings (Lerner-Ellis et al. 2006).

Literature References
PubMed ID Title Journal Year
16311595 Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type

Lerner-Ellis, JP, Tirone, JC, Pawelek, PD, Doré, C, Atkinson, JL, Watkins, D, Morel, CF, Fujiwara, TM, Moras, E, Hosack, AR, Dunbar, GV, Antonicka, H, Forgetta, V, Dobson, CM, Leclerc, D, Gravel, RA, Shoubridge, EA, Coulton, JW, Lepage, P, Rommens, JM, Morgan, K, Rosenblatt, DS

Nat. Genet. 2006
Participants
Participates
Disease
Name Identifier Synonyms
methylmalonic aciduria and homocystinuria type cblC DOID:0050715 Cobalamin C deficiency
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