Maple syrup urine disease case study9/1/2023 ![]() Within the brain, glutamate serves as a neurotransmitter within the central nervous system and plays important roles in brain development and cognitive functions. The deficiency of BCKD causes the corresponding branched-chain keto acids (BCKAs) formed by branched-chain amino acid (BCAA) transaminase to be unable to oxidize decarboxylic acid, resulting in the accumulation of BCAAs (including leucine, isoleucine and valine) and BCKAs. The incidence of MSUD is 1 in 185,000 births throughout the world, and the incidence rate may be higher in some ethnic and racial groups. The first cases of MSUD were described by Menkes et al. Maple syrup urine disease (MSUD) is a rare metabolic disorder of autosomal recessive inheritance caused by decreased activity of the branched-chain α-ketoacid dehydrogenase (BCKD) complex. 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. The mutation c.1132C > T (p.378X) is a novel DBT gene mutation that is associated with MSUD and always has mild clinical manifestations. Once diagnosed with MSUD, the patient’s disease was controlled with a diet of BCAA-free enteral formula and thiamine. 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. 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. Here, the presenting symptoms and clinical course of a case of MSUD with a novel DBT gene mutation are described. ![]() ![]() Mutations in four genes (BCKDHA, BCKDHB, DLD and DBT) are associated with MSUD. ![]() 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. ![]()
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