Case report: maple syrup urine disease with a novel DBT gene mutation
Abstract Background Maple syrup urine disease (MSUD) is a potentially life-threatening metabolic disorder caused by decreased activity of the branched-chain α-ketoacid dehydrogenase (BCKD) complex. Mutations in four genes (BCKDHA, BCKDHB, DLD and DBT) are associated with MSUD. Here, the presenting s...
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doaj-7b05f5dd254148da852a3c0aecec99902020-12-13T12:12:54ZengBMCBMC Pediatrics1471-24312019-12-011911510.1186/s12887-019-1880-1Case report: maple syrup urine disease with a novel DBT gene mutationWei Feng0Jinfu Jia1Heyang Guan2Qing Tian3Tianjin Medical UniversityTianjin Medical UniversityChongqing Medical UniversityTianjin First Central HospitalAbstract Background Maple syrup urine disease (MSUD) is a potentially life-threatening metabolic disorder caused by decreased activity of the branched-chain α-ketoacid dehydrogenase (BCKD) complex. Mutations in four genes (BCKDHA, BCKDHB, DLD and DBT) are associated with MSUD. Here, the presenting symptoms and clinical course of a case of MSUD with a novel DBT gene mutation are described. Case presentation We describe an infant with MSUD with the DBT gene mutation who had drowsiness and poor appetite as well as abnormal findings upon head magnetic resonance imaging (MRI), plasma amino acid analysis and urine organic acid analysis. Genetic testing revealed that both parents had the heterozygous mutation c.1132C > T (p.378X) in chr1:100672078, and the patient had the homozygous mutations c.1132C > T (p.378X) in chr1:100672078. Once diagnosed with MSUD, the patient’s disease was controlled with a diet of BCAA-free enteral formula and thiamine. Conclusion The mutation c.1132C > T (p.378X) is a novel DBT gene mutation that is associated with MSUD and always has mild clinical manifestations. After timely BCAA-free nutrition and supplementation with thiamine for the patient, the plasma levels of BCAAs reached a safe level, the abnormal range of the multiple intracranial abnormalities was significantly smaller than before, and the symptoms of drowsiness and poor appetite disappeared.https://doi.org/10.1186/s12887-019-1880-1Maple syrup urine diseaseDBT gene mutationThiamineChildren |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Wei Feng Jinfu Jia Heyang Guan Qing Tian |
spellingShingle |
Wei Feng Jinfu Jia Heyang Guan Qing Tian Case report: maple syrup urine disease with a novel DBT gene mutation BMC Pediatrics Maple syrup urine disease DBT gene mutation Thiamine Children |
author_facet |
Wei Feng Jinfu Jia Heyang Guan Qing Tian |
author_sort |
Wei Feng |
title |
Case report: maple syrup urine disease with a novel DBT gene mutation |
title_short |
Case report: maple syrup urine disease with a novel DBT gene mutation |
title_full |
Case report: maple syrup urine disease with a novel DBT gene mutation |
title_fullStr |
Case report: maple syrup urine disease with a novel DBT gene mutation |
title_full_unstemmed |
Case report: maple syrup urine disease with a novel DBT gene mutation |
title_sort |
case report: maple syrup urine disease with a novel dbt gene mutation |
publisher |
BMC |
series |
BMC Pediatrics |
issn |
1471-2431 |
publishDate |
2019-12-01 |
description |
Abstract Background Maple syrup urine disease (MSUD) is a potentially life-threatening metabolic disorder caused by decreased activity of the branched-chain α-ketoacid dehydrogenase (BCKD) complex. Mutations in four genes (BCKDHA, BCKDHB, DLD and DBT) are associated with MSUD. Here, the presenting symptoms and clinical course of a case of MSUD with a novel DBT gene mutation are described. Case presentation We describe an infant with MSUD with the DBT gene mutation who had drowsiness and poor appetite as well as abnormal findings upon head magnetic resonance imaging (MRI), plasma amino acid analysis and urine organic acid analysis. Genetic testing revealed that both parents had the heterozygous mutation c.1132C > T (p.378X) in chr1:100672078, and the patient had the homozygous mutations c.1132C > T (p.378X) in chr1:100672078. Once diagnosed with MSUD, the patient’s disease was controlled with a diet of BCAA-free enteral formula and thiamine. Conclusion The mutation c.1132C > T (p.378X) is a novel DBT gene mutation that is associated with MSUD and always has mild clinical manifestations. After timely BCAA-free nutrition and supplementation with thiamine for the patient, the plasma levels of BCAAs reached a safe level, the abnormal range of the multiple intracranial abnormalities was significantly smaller than before, and the symptoms of drowsiness and poor appetite disappeared. |
topic |
Maple syrup urine disease DBT gene mutation Thiamine Children |
url |
https://doi.org/10.1186/s12887-019-1880-1 |
work_keys_str_mv |
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