A compound heterozygote case of isolated sulfite oxidase deficiency

A compound heterozygote case of isolated sulfite oxidase deficiency

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 oxida...

Full description

Bibliographic Details
Main Authors: Daniel Brumaru, Eric Guerin, Anne-Claire Voegeli, Didier Eyer, Michel Maitre
Format: Article
Language:English
Published: Elsevier 2017-09-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Compound heterozygote
Point mutation
Missense mutation
Transition
Transversion
Fibroblasts
Sulfite oxidase activity
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426917300101
Description
Summary: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.
ISSN:2214-4269

Similar Items