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...

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Detalles Bibliográficos
Autores principales: Brumaru, Daniel, Guerin, Eric, Voegeli, Anne-Claire, Eyer, Didier, Maitre, Michel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2017
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5501915/
https://www.ncbi.nlm.nih.gov/pubmed/28725568
http://dx.doi.org/10.1016/j.ymgmr.2017.06.009
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author Brumaru, Daniel
Guerin, Eric
Voegeli, Anne-Claire
Eyer, Didier
Maitre, Michel
author_facet Brumaru, Daniel
Guerin, Eric
Voegeli, Anne-Claire
Eyer, Didier
Maitre, Michel
author_sort Brumaru, Daniel
collection PubMed
description 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.
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spelling pubmed-55019152017-07-19 A compound heterozygote case of isolated sulfite oxidase deficiency Brumaru, Daniel Guerin, Eric Voegeli, Anne-Claire Eyer, Didier Maitre, Michel Mol Genet Metab Rep Short Communication 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. Elsevier 2017-07-06 /pmc/articles/PMC5501915/ /pubmed/28725568 http://dx.doi.org/10.1016/j.ymgmr.2017.06.009 Text en © 2017 The Authors http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Short Communication
Brumaru, Daniel
Guerin, Eric
Voegeli, Anne-Claire
Eyer, Didier
Maitre, Michel
A compound heterozygote case of isolated sulfite oxidase deficiency
title A compound heterozygote case of isolated sulfite oxidase deficiency
title_full A compound heterozygote case of isolated sulfite oxidase deficiency
title_fullStr A compound heterozygote case of isolated sulfite oxidase deficiency
title_full_unstemmed A compound heterozygote case of isolated sulfite oxidase deficiency
title_short A compound heterozygote case of isolated sulfite oxidase deficiency
title_sort compound heterozygote case of isolated sulfite oxidase deficiency
topic Short Communication
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5501915/
https://www.ncbi.nlm.nih.gov/pubmed/28725568
http://dx.doi.org/10.1016/j.ymgmr.2017.06.009
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