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GENATLAS PHENOTYPE |
last update : 21-01-2009 |
Symbol | AHCYD |
Location | 20q11.22 |
Name | S-adenosylhomocysteine hydrolase deficiency |
Other name(s) | hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency |
Corresponding gene | AHCY |
Other symbol(s) | SAHH |
Main clinical features |
|
Genetic determination | autosomal recessive |
Function/system disorder | metabolism/aminoacids |
Type | disease |
Gene product |
Name | S-adenosyl homocysteine hydrolase deficiency |
Remark(s) | related to the metabolic pathway from methionine to homocysteine |