Biomaterial Database

Biochemical and molecular diagnosis of lipoamide dehydrogenase deficiency in a North American Ashkenazi Jewish family. 2006

C Sansaricq, and S Pardo, and M Balwani, and M Grace, and K Raymond

Department of Human Genetics, Mount Sinai School of Medicine, New York, NY 10029, USA. claude.sansaricq@mssm.edu

A late-onset presentation of lipoamide dehydrogenase (E3) deficiency is described in a North American Ashkenazi Jewish (AJ) family. Diagnosis was made by urine organic acid and molecular analyses.

UI	MeSH Term	Description	Entries
D007585	Jews	An ethnic group with historical ties to the land of ISRAEL and the religion of JUDAISM.	Jew
D008058	Dihydrolipoamide Dehydrogenase	A flavoprotein containing oxidoreductase that catalyzes the reduction of lipoamide by NADH to yield dihydrolipoamide and NAD+. The enzyme is a component of several MULTIENZYME COMPLEXES.	Lipoamide Dehydrogenase,NAD Diaphorase,NADH Diaphorase,Diaphorase (Lipoamide Dehydrogenase),Dihydrolipoyl Dehydrogenase,Glycine Decarboxylase Complex L-Protein,L-Protein, Glycine Decarboxylase Complex,Lipoamide Dehydrogenase, Valine,Lipoic Acid Dehydrogenase,Lipoyl Dehydrogenase,Valine Lipoamide Dehydrogenase,Dehydrogenase, Dihydrolipoamide,Dehydrogenase, Dihydrolipoyl,Dehydrogenase, Lipoamide,Dehydrogenase, Lipoic Acid,Dehydrogenase, Lipoyl,Dehydrogenase, Valine Lipoamide,Diaphorase, NAD,Diaphorase, NADH,Glycine Decarboxylase Complex L Protein
D008297	Male		Males
D008661	Metabolism, Inborn Errors	Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.	Inborn Errors of Metabolism,Metabolism Errors, Inborn,Error, Inborn Metabolism,Errors Metabolism, Inborn,Errors Metabolisms, Inborn,Errors, Inborn Metabolism,Inborn Errors Metabolism,Inborn Errors Metabolisms,Inborn Metabolism Error,Inborn Metabolism Errors,Metabolism Error, Inborn,Metabolism Inborn Error,Metabolism Inborn Errors,Metabolisms, Inborn Errors
D009154	Mutation	Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.	Mutations
D009656	North America	The northern continent of the Western Hemisphere, extending northward from the Colombia-Panama border and including CENTRAL AMERICA, MEXICO, Caribbean area, the UNITED STATES, CANADA and GREENLAND. The term often refers more narrowly to MEXICO, continental UNITED STATES, AND CANADA.	Northern America
D002675	Child, Preschool	A child between the ages of 2 and 5.	Children, Preschool,Preschool Child,Preschool Children
D005091	Exons	The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.	Mini-Exon,Exon,Mini Exon,Mini-Exons
D006579	Heterozygote	An individual having different alleles at one or more loci regarding a specific character.	Carriers, Genetic,Genetic Carriers,Carrier, Genetic,Genetic Carrier,Heterozygotes
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man