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A compound heterozygote case of isolated sulfite oxidase deficiency.

ABSTRACT: We report an isolated sulfite oxidase deficiency in the first child boy of a non-consanguineous Caucasian family. He's a compound heterozygote for the sulfite oxidase gene, presenting low cystine, undetectable homocysteine and normal uric acid blood concentrations and undetectable sulfite oxidase activity in his cultured fibroblasts. Both mutations are not reported yet. The clinical presentation was typical and severe, with generalized status epilepticus and premature death.

SUBMITTER: Brumaru D 

PROVIDER: S-EPMC5501915 | biostudies-literature | 2017 Sep

REPOSITORIES: biostudies-literature

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A compound heterozygote case of isolated sulfite oxidase deficiency.

Brumaru Daniel D   Guerin Eric E   Voegeli Anne-Claire AC   Eyer Didier D   Maitre Michel M  

Molecular genetics and metabolism reports 20170706

We report an isolated sulfite oxidase deficiency in the first child boy of a non-consanguineous Caucasian family. He's a compound heterozygote for the sulfite oxidase gene, presenting low cystine, undetectable homocysteine and normal uric acid blood concentrations and undetectable sulfite oxidase activity in his cultured fibroblasts. Both mutations are not reported yet. The clinical presentation was typical and severe, with generalized status epilepticus and premature death. ...[more]

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