isolated sulfite oxidase deficiency

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_bas

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.

Signs and symptoms

• Bilateral tonic-clonic seizure
• Narrow forehead
• Elevated circulating creatine kinase activity
• Multifocal epileptiform discharges
• Severe intellectual disability
• Cerebral visual impairment
• Agitation
• Metabolic acidosis
• Axial hypotonia
• Sulfite oxidase deficiency

Also known as: sulfocysteinuria