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 )

Relationships
is a type of: autosomal recessive disease maple syrup urine disease