S-Adenosylhomocysteine (SAH) Hydrolase Deficiency


S-Adenosylhomocysteine (SAH) Hydrolase Deficiency (Hypermethioninemia, familial) is caused by a defect in the AHCY gene, which codes for S-adenosylhomocysteine hydrolase (SAH). S-adenosylhomocysteine hydrolase catalyzes the hydrolysis of S-adenosylhomocysteine to adenosine and homocysteine. In eukaryotes, this is the major route for disposal of the S-adenosylhomocysteine formed as a common product of each of many S-adenosylmethionine-dependent methyltransferases. SAH Deficiency causes accumulation of guanidinoacetate, homocysteine, methionine, s-adenosylhomocysteine and s-adenosylmethionine in plasma, and methionine in spinal fluid. Symptoms include cerebral atrophy, dysmorphism, strabismus, jaundice, mental and motor retardation.

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References

  1. Uniprot: A8K307
  2. Wikipedia: S-adenosylhomocysteine hydrolase deficiency
  3. OMIM: Entry 180960
  4. Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. (2007). Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy (pp 92) (2nd ed). Heilbronn: SPS Verlagsgesellschaft
  5. 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: S-adenosylhomocysteine hydrolase deficiency in a human: a genetic disorder of methionine metabolism. Proc Natl Acad Sci U S A. 2004 Mar 23;101(12):4234-9. Epub 2004 Mar 15. Pubmed