Defective AHCY causes Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD)

Stable Identifier
R-HSA-5578997
Type
Pathway
Species
Homo sapiens
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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

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

Proc. Natl. Acad. Sci. U.S.A. 2004
Participants
Participant Of
Disease
Name Identifier Synonyms
hypermethioninemia 0050544 HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY
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