1 Child Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0111039 | 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 20q11. |
1 Parent Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0050544 | hypermethioninemia | An amino acid metabolic disorder that involves an excess of the amino acid methionine, in the blood. This condition can occur when methionine is not broken down properly in the body. |
