Defective AHCY causes HMAHCHD

Stable Identifier
R-HSA-5578997
Type
Pathway
Species
Homo sapiens
Synonyms
Defective AHCY causes Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD)
ReviewStatus
5/5
Locations in the PathwayBrowser
General
SVG |   | PPTX  | SBGN
Click the image above or here to open this pathway in the Pathway Browser
Adenosylhomocysteinase (AHCY) is a tetrameric, NAD+-bound, cytosolic protein that regulates all adenosylmethionine (AdoMet) dependent transmethylations by hydrolysing the feedback inhibitor adenosylhomocysteine (AdoHcy) to homocysteine (HCYS) and adenosine (Ade-Rib). Defects in AHCY cause Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD; MIM:613752), a metabolic disorder characterised by hypermethioninemia associated with failure to thrive, psychomotor retardation, facial dysmorphism with abnormal hair and teeth and myocardiopathy (Baric et al. 2004).
Literature References
PubMed ID Title Journal Year
15024124 S-adenosylhomocysteine hydrolase deficiency in a human: a genetic disorder of methionine metabolism

Sarnavka, V, Baric, I, Pazanin, L, Allen, RH, Wagner, C, Vugrek, O, Mejaski-Bosnjak, V, James, SJ, Cuk, M, Mudd, SH, Stabler, S, Schulze, A, Uzelac, L, Rados, M, Finkelstein, JD, Fumic, K, Scukanec-Spoljar, M, Pogribny, IP, Zeisel, S, Glenn, B

Proc. Natl. Acad. Sci. U.S.A. 2004
Participants
Participates
Disease
Name Identifier Synonyms
hypermethioninemia DOID:0050544 HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY
Authored
Reviewed
Created
Cite Us!