Home Page
References OMIM Gene GeneReviews HGMD HGNC
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
  • with failure to thrive, mental, and motor retardation facial dysmorphy, cardiomyopathy, elevated serum creatine kinase and transaminases, with matter atrophy, abnormally slow myelination and a deficiency of AHCY
  • 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