Sulfite oxidase deficiency [Supplementary Concept]
An autosomal recessive metabolic disorder caused by mutations in the SUOX gene (sulfite oxidase). Findings may include ECTOPIA LENTIS; ECZEMA; HEMIPLEGIA; MUSCLE HYPOTONIA or MUSCLE HYPERTONIA; SEIZURES; ATAXIA and DEVELOPMENTAL DISABILITIES. It is characterized by increased urinary sulfite and decreased urinary sulfate and may be lethal in infancy. OMIM: 272300
Date introduced: August 25, 2010
MeSH Unique ID: C538141
Heading Mapped to:
Entry Terms: