Abstract
BackgroundMaple 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 presentationWe 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.ConclusionThe 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.
Highlights
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
The mutation c.1132C > T (p.378X) is a novel DBT gene mutation that is associated with MSUD and always has mild clinical manifestations
Maple syrup urine disease (MSUD) is a rare metabolic disorder of autosomal recessive inheritance caused by decreased activity of the branched-chain αketoacid dehydrogenase (BCKD) complex
Summary
In view of the clinical data of the patient, prompt diagnosis and treatment were essential to improve prognosis. Urinary organic acid analysis and head MRI were crucial for the timely diagnosis. We identified a novel mutation of the DBT gene (c.1132C > T (p.378X)), and BCAA-free nutrition and a thiamine diet were effective to improve the blood level of BCAAs. we identified a novel mutation of the DBT gene (c.1132C > T (p.378X)), and BCAA-free nutrition and a thiamine diet were effective to improve the blood level of BCAAs This case provides an important reference for the diagnosis and treatment of MSUD
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