MeSH Browser

MeSH Supplementary: Sulfite oxidase deficiency
Unique ID: C538141
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C538141
Entry Term(s): Sulfocysteinuria
Registry Number: 0
Heading Mapped to: *Amino Acid Metabolism, Inborn Errors; Sulfite Oxidase / *deficiency
Frequency: 39
Note: 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 of Entry: 2010/08/25
Revision Date: 2015/09/27

Sulfite oxidase deficiency MeSH Supplementary Concept Data 2024