A compound heterozygote case of isolated sulfite oxidase deficiency

Molecular Genetics and Metabolism Reports

Eric Guerin¹  Michel Maitre¹  Anne-Claire Voegeli¹  Daniel Brumaru¹  Didier Eyer² 

[1] Hôpitaux Universitaires de Strasbourg, Laboratoire de Biochimie et Biologie Moléculaire, 67000 Strasbourg, France;Hôpitaux Universitaires de Strasbourg, Service de Pédiatrie 3, 67000 Strasbourg, France;

关键词: Compound heterozygote;    Point mutation;    Missense mutation;    Transition;    Transversion;    Fibroblasts;    Sulfite oxidase activity;   

DOI  :  10.1016/j.ymgmr.2017.06.009

来源: DOAJ

【 摘 要 】

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.

【 授权许可】

Unknown