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Human Disease

hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase

Term ID
DOID:0111039
Synonyms
  • hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency
  • psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
Definition
A hypermethioninemia characterized by autosomal recessive inheritance of psychomotor delay, severe myopathy, hypermethioninaemia and elevated serum creatine kinase levels that has_material_basis_in compound heterozygous mutation in the AHCY gene on chromosome 20q11. (2)
References
Ontology
Human Disease   ( DOID:0111039 )
Relationships
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Genes Involved
Zebrafish Models