| Term Name: | mild variant of maple syrup urine disease |
|---|---|
| Synonyms: | |
| Definition: | A maple syrup urine disease characterized by increased plasma levels of branched-chain amino acids (BCAA) apparent at birth that has_material_basis_in homozygous mutation in the PPM1K gene on chromosome 4q22. |
| Ontology: | Human Disease [DOID:0061205] ( DOID:0061205 ) |