hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase

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

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.

Signs and symptoms

• Hypermethioninemia
• Poor head control
• Elevated circulating aspartate aminotransferase concentration
• Global developmental delay
• Hypotonia
• Decreased tissue S-adenosylhomocysteine hydrolase activity
• Hypoalbuminemia
• Elevated circulating creatine kinase MM isoform concentration
• Elevated circulating alanine aminotransferase concentration
• Decreased hepatic echogenicity

Also known as: hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency; psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency