isolated sulfite oxidase deficiency (DOID:0111270)
Alliance: disease page
Synonyms: sulfocysteinuria
Alt IDs: OMIM:272300, ICD10CM:E72.19, MESH:C538141, ORDO:99731, UMLS_CUI:C0268624, UMLS_CUI:C2931746
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.