isolated sulfite oxidase deficiency

Term ID

DOID:0111270

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. (3)

References

• GARD:5062
• ICD10CM:E72.19
• MESH:C538141
• MIM:272300
• ORDO:99731
• SNOMEDCT_US_2023_03_01:237935000
• SNOMEDCT_US_2023_03_01:40873003
• UMLS_CUI:C0268624
• UMLS_CUI:C2931746

Ontology

Human Disease   ( DOID:0111270 )