Home > Specialties > IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, BCKDHA

IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, BCKDHA

Definition : Molecular assay reagents intended to identify mutations in the branched-chain keto-acid dehydrogenase E1, alpha polypeptide (BCKDHA) gene, located at chromosome 19q13.1-q13.2, which encodes for the E1-alpha subunit of the branched-chain alpha-keto acid (BCAA) dehydrogenase complex. This enzyme is responsible for one step in the breakdown of three amino acids: leucine, isoleucine, and valine; the breakdown products of these amino acids are used for energy. Mutations at this locus have been identified in patients with early-onset maple syrup urine disease (MSUD).

Entry Terms : "Acidemia Gene Mutation Detection Reagents" , "Organic Aciduria Gene Mutation Detection Reagents" , "Organic Acidemia Gene Mutation Detection Reagents" , "Maple Syrup Urine Disease (MSUD) Type IA Gene Mutation Detection Reagents" , "Aciduria Gene Mutation Detection Reagents" , "BCKDHA Gene Mutation Detedtion Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, BCKDHA"

UMDC code : 24310

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Cancer Diagnostics Inc

Company Type: Parent

Cancer Diagnostics, Inc. (CDI)  manufactures, develops, and supplies products for the worldwide anatomical pathology market.

Mayo Medical Laboratories

Company Type: Parent

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