TY - JOUR U1 - Zeitschriftenartikel, wissenschaftlich - begutachtet (reviewed) A1 - Meyer, Melanie A1 - Hollenbeck, Jana C. A1 - Reunert, Janine A1 - Seelhöfer, Anja A1 - Rust, Stephan A1 - Fobker, Manfred A1 - Biskup, Saskia A1 - Och, Ulrike A1 - Linden, Mechthild A1 - Sass, Jörn Oliver A1 - Marquardt, Thorsten T1 - 3-Hydroxyisobutyrate Dehydrogenase (HIBADH) deficiency - a novel disorder of valine metabolism JF - Journal of Inherited Metabolic Disease N2 - 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. KW - 3-hydroxyisobutyric aciduria KW - 3-hydroxyisobutyrate dehydrogenase KW - 3-hydroxyisobutyrate dehydrogenase deficiency KW - branched-chain amino acids KW - HIBADH KW - HIBADH deficiency KW - valine degradation UN - https://nbn-resolving.org/urn:nbn:de:hbz:1044-opus-56230 SN - 0141-8955 SS - 0141-8955 U6 - https://doi.org/10.1002/jimd.12410 DO - https://doi.org/10.1002/jimd.12410 PM - 34176136 VL - 44 IS - 6 SP - 1323 EP - 1329 PB - John Wiley & Sons ER -