期刊
JOURNAL OF INHERITED METABOLIC DISEASE
卷 44, 期 6, 页码 1323-1329出版社
WILEY
DOI: 10.1002/jimd.12410
关键词
3-hydroxyisobutyric aciduria; 3-hydroxyisobutyrate dehydrogenase; 3-hydroxyisobutyrate dehydrogenase deficiency; branched-chain amino acids; HIBADH; HIBADH deficiency; valine degradation
3-Hydroxyisobutyric acid (3HiB) is an intermediate in valine degradation, and disorders in valine metabolism can lead to its accumulation in urine. HIBADH gene mutation results in enzyme dysfunction, but a low-valine diet can reduce 3HiB excretion. Further evaluation is needed due to limited patient numbers and intrafamilial phenotype differences.
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.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据