Infantile isolated sulphite oxidase deficiency in a Chinese family: a rare neurodegenerative disorder.

Abstract

We report the clinical, biochemical, neuroradiological, and neurophysiological findings of a 4-year-old Chinese girl with infantile isolated sulphite oxidase deficiency. This is the first reported case in our locality. She presented at the age of 5 months with refractory seizures and developmental regression, and progressed rapidly to profound psychomotor retardation, spasticity, dystonia, microcephaly, and blindness. At the age of 3.5 years, she was admitted to the intensive care unit with septic shock. Ophthalmologic examination at this time revealed bilateral dislocation of the lens. Diagnosis of this very rare disorder was made on the basis of increased levels of urinary sulphite, thiosulphate, and sulphocysteine; normal urine xanthine and hypoxanthine; normal plasma uric acid; and low plasma cystine levels. The diagnosis was confirmed by the absence of sulphite oxidase activities in skin fibroblasts. Isolated sulphite oxidase deficiency is a rare inborn error of sulphur metabolism that is difficult to diagnose on clinical features and routine metabolic tests. The presence of ectopia lentis, seizures, and progressive neurological abnormalities should alert clinicians to the diagnosis.

• Authors: K Y Chan, C K Li, C K Lai, S F Ng, A Y W Chan
• Journal: Hong Kong medical journal = Xianggang yi xue za zhi (Hong Kong Med J) Vol. 8 Issue 4 Pg. 279-82 (Aug 2002) ISSN: 1024-2708 [Print] China
• PMID: 12167732 (Publication Type: Case Reports, Journal Article, Review)

Chemical References

• Oxidoreductases Acting on Sulfur Group Donors

Topics

• Amino Acid Metabolism, Inborn Errors (metabolism)
• Child, Preschool
• Family
• Female
• Heredodegenerative Disorders, Nervous System (metabolism)
• Humans
• Oxidoreductases Acting on Sulfur Group Donors (deficiency, metabolism)