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3-Hydroxyisobutyrate Dehydrogenase (HIBADH) deficiency - a novel disorder of valine metabolism

  • 3-Hydroxyisobutyric acid (3HiB) is an intermediate in the degradation of the branched-chain amino acid valine. Disorders in valine degradation can lead to 3HiB accumulation and its excretion in the urine. This article describes the first two patients with a new metabolic disorder, 3-hydroxyisobutyrate dehydrogenase (HIBADH) deficiency, its phenotype and its treatment with a low-valine diet. The detected mutation in the HIBADH gene leads to nonsense-mediated mRNA decay of the mutant allele and to a complete loss-of-function of the enzyme. Under strict adherence to a low-valine diet a rapid decrease of 3HiB excretion in the urine was observed. Due to limited patient numbers and intrafamilial differences in phenotype with one affected and one unaffected individual, the clinical phenotype of HIBADH deficiency needs further evaluation.

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Document Type:Article
Author:Melanie Meyer, Jana C. Hollenbeck, Janine Reunert, Anja Seelhöfer, Stephan Rust, Manfred Fobker, Saskia Biskup, Ulrike Och, Mechthild Linden, Jörn Oliver Sass, Thorsten Marquardt
Parent Title (English):Journal of Inherited Metabolic Disease
First Page:1323
Last Page:1329
Publisher:John Wiley & Sons
Publishing Institution:Hochschule Bonn-Rhein-Sieg
Date of first publication:2021/06/26
Copyright:© 2021 The Authors. This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License.
Keyword:3-hydroxyisobutyrate dehydrogenase; 3-hydroxyisobutyrate dehydrogenase deficiency; 3-hydroxyisobutyric aciduria; HIBADH; HIBADH deficiency; branched-chain amino acids; valine degradation
Departments, institutes and facilities:Fachbereich Angewandte Naturwissenschaften
Institut für funktionale Gen-Analytik (IFGA)
Dewey Decimal Classification (DDC):6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 610 Medizin und Gesundheit
Entry in this database:2021/06/30
Licence (German):License LogoCreative Commons - CC BY-NC-ND - Namensnennung - Nicht kommerziell - Keine Bearbeitungen 4.0 International