1994 55:297–304.Įdelmann L, Wasserstein MP, Kornreich R, Sansaricq C, Snyderman SE, Diaz GA. Molecular basis of maple syrup urine disease: novel mutations at the E1 alpha locus that impair E1(alpha 2 beta 2) assembly or decrease steady-state E1 alpha mRNA levels of branched-chain alpha-keto acid dehydrogenase complex. Maple syrup urine disease: mechanisms and management. ![]() All rights reserved.īlackburn PR, Gass JM, Vairo FPE, Farnham KM, Atwal HK, Macklin S, Klee EW, Atwal PS. Published by Baishideng Publishing Group Inc. Our work provides diagnostic experience of an intermediate MSUD case, suggesting that a genetic analysis is important for ambiguous cases, and alerts clinicians to avoid missing patients with non-classic mild phenotypes of MSUD.īCKDHB gene Branched-chain amino acids Case report Genetic analysis Maple syrup urine disease Metabolic profiling. In addition, genetic counseling and prenatal diagnosis were provided to his parents. His management was then changed to BCAAs restriction and metabolic monitoring conforming to MSUD. According to his disease course, he was classified into an intermediate form of MSUD. His clinical and laboratory data were retrospectively analyzed. However, whole exome sequencing and subsequent Sanger sequencing at 1 year and 7 mo of age identified bi-allelic pathogenic variants of the BCKDHB gene, confirming the proband as having MSUD with non-classic mild phenotypes. Preliminary clinical and metabolic profiling did not support a specific disease. ![]() The proband presented with psychomotor retardation and cerebral lesions on magnetic resonance imaging scans at 8 mo of age. This study reports the diagnostic process of a boy with intermediate MSUD. This study aims to share the diagnostic experience of an intermediate MSUD case who was missed by metabolic profiling but identified by genetic analysis. ![]() However, the clinical and metabolic screening is limited in identifying all MSUD patients, especially those patients with mild phenotypes or are asymptomatic. Maple syrup urine disease (MSUD) is an autosomal recessive genetic disorder caused by defects in the catabolism of the branched-chain amino acids (BCAAs).
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