Isolated sulphite oxidase deficiency in a newborn girl.

Sara Seneca, Willy Lissens, Erik Gerlo, D. Hasaerts, C. Dorche, Ingeborg Liebaers, Linda De Meirleir

Onderzoeksoutput: Meeting abstract (Journal)

Samenvatting

Sulphite oxidase deficiency is a rare, autosomal recessive inborn error of metabolism. The disease may occur as an isolated deficiency of sulphite oxidase or, more often, as a molybdenum cofactor deficiency.
We report here on a girl, born at term with normal birth weight after an uneventful pregnancy to healthy, unrelated parents. She was admitted to the neonatal care unit with apnoeas, feeding difficulties and hypothonia. The patient developed symmetrical and asymmetrical clonic seizures with bicycling movements. A MRI and CT scan of the brain revealed diffuse cerebral oedema of the subcortex and white matter. Laboratory studies showed increased S-sulfocysteine and thiosulfate levels, but normal xanthine and hypoxanthine levels in urine. A diagnosis of isolated sulphite oxidase deficiency disorder was considered and subsequently confirmed by absence of sulphite oxidase enzymatic activity in cultured fibroblasts.
Automatic sequencing analysis of cDNA from fibroblast mRNA identified a homozygous G to A point mutation at position 913, resulting in a glycine to serine amino acid substitution (G305S). The mutation was verified at the genomic level. Both parents were heterozygous carriers of the mutation. The G305S mutation was not found in 25 unrelated controls. A prenatal diagnosis on CVS material was performed for a second pregnancy, and a healthy heterozygous carrier girl was born.
Originele taal-2English
Pagina's (van-tot)78-78
Aantal pagina's1
TijdschriftJ Inherit Metab Dis
Volume23
StatusPublished - 2000
EvenementUnknown -
Duur: 1 jan 2000 → …

Bibliografische nota

Abstract: J Inherit Metab Dis 23 Supll.1: 78, 2000.

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