Clinical, biochemical, and molecular findings in three patients with 3-hydroxyisobutyric aciduria.

Détails

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Etat: Supprimée
Version: de l'auteur⸱e
ID Serval
serval:BIB_4A9F38246840
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Titre
Clinical, biochemical, and molecular findings in three patients with 3-hydroxyisobutyric aciduria.
Périodique
Molecular Genetics and Metabolism
Auteur⸱e⸱s
Loupatty F.J., van der Steen A., Ijlst L., Ruiter J.P., Ofman R., Baumgartner M.R., Ballhausen D., Yamaguchi S., Duran M., Wanders R.J.
ISSN
1096-7192 (Print)
ISSN-L
1096-7192
Statut éditorial
Publié
Date de publication
2006
Peer-reviewed
Oui
Volume
87
Numéro
3
Pages
243-248
Langue
anglais
Notes
Publication types: Case Reports ; Journal ArticlePublication Status: ppublish
Résumé
3-Hydroxyisobutyric aciduria is a rare entity and affected individuals display a range of clinical manifestations including dysmorphic features and neurodevelopmental problems in the majority of patients. Here, we present two novel patients with 3-hydroxyisobutyric aciduria. To our knowledge, these are the 11th and 12th cases of 3-hydroxyisobutyic aciduria reported. It is believed that a deficiency in 3-hydroxyisobutyrate dehydrogenase is the most likely cause of this disorder. Measurement of 3-hydroxyisobutyrate dehydrogenase activity in fibroblasts homogenates of the two newly identified patients and a previously reported patient, however, revealed similar activities as in control fibroblasts. Since other enzymes with overlapping substrate specificity could conceal abnormal 3-hydroxyisobutyrate dehydrogenase activity, we cloned a candidate human cDNA for 3-hydroxyisobutyrate dehydrogenase (HIBADH). By heterologous expression in Escherichia coli, we showed that the product of the HIBADH gene indeed displays 3-hydroxyisobutyrate dehydrogenase activity. Mutation analysis of the corresponding gene in the patients suffering from 3-hydroxyisobutyric aciduria revealed no mutations. We conclude that HIBADH is not the causative gene in 3-hydroxyisobutyric aciduria.
Mots-clé
Alcohol Oxidoreductases/genetics, Alcohol Oxidoreductases/metabolism, Cells, Cultured, Child, Preschool, DNA/genetics, DNA Mutational Analysis, Genome, Human/genetics, Humans, Hydroxybutyrates/chemistry, Hydroxybutyrates/metabolism, Male, Metabolism, Inborn Errors/enzymology, Metabolism, Inborn Errors/genetics, Recombinant Fusion Proteins/metabolism, Valine/metabolism
Pubmed
Web of science
Création de la notice
29/03/2010 13:21
Dernière modification de la notice
20/08/2019 14:58
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