Defective MMACHC causes MAHCC

Stable Identifier
R-HSA-3359474
Type
Pathway
Species
Homo sapiens
Synonyms
Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC
ReviewStatus
5/5
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Defective MMACHC causes MAHCC
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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
Events
Participates
as an event of
Disease
Name Identifier Synonyms
methylmalonic aciduria and homocystinuria type cblC DOID:0050715 Cobalamin C deficiency
Cross References
Mondo
Authored
Jassal, B  (2013-05-13)
Reviewed
Watkins, D  (2013-08-14)
Created
Jassal, B  (2013-05-13)
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