Term Name:	isolated sulfite oxidase deficiency
Synonyms:	sulfocysteinuria
Definition:	An inherited metabolic disorder characterized by increased sulfite in the urine with markedly decreased inorganic sulfate excretion and resulting in variable phenotypes ranging from severe early onset disease to late-onset, milder disease that has_material_basis_in homozygous or compound heterozygous mutation in SUOX on 12q13.2.
Ontology:	Human Disease [DOID:0111270]   ( DOID:0111270 )