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Gene: SUOX

Green List (high evidence)

Isolated sulfite oxidase deficiency (ISOD) is a rare type of life-threatening neurometabolic disorder (PMID: 35679912).

The clinical presentation varies from typical severe disease with prenatal-neonatal onset to rarer, atypical, mild to moderate disease with post-neonatal onset. Among atypical presentations, the onset of symptoms from 6 months onward is
defined as late-onset ISOD. Late-onset ISOD occurs in children who were mostly previously asymptomatic and is often precipitated by intercurrent illness or trivial head trauma. The most common clinical manifestation is acute encephalopathy characterized by developmental regression (transient or permanent), seizures, abnormal muscle tone and/or movement disorder (PMID: 39676698).

Genotype-phenotype analysis demonstrated patients with biallelic missense mutations had milder symptoms, later age of onset, and a higher incidence of regression than other genotypes (PMID: 36303223).

Created: 20 Jan 2025, 9:50 p.m. | Last Modified: 20 Jan 2025, 9:50 p.m.

Panel Version: 1.1257

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
9428520; 15952210; 31127934; 39676698; 36303223

Publications

• Sulfite oxidase deficiency MIM#272300