![]() These patients had no mutations in either theīCKDHB or the DBT gene. Patient 1 was homozygous for c.1036C>T (p.R346C) patient 2 was heterozygous, with c.632C>T (p.T211M) and c.659C>T Three patients were either homozygous or compound heterozygous for Amino acid analysis showed elevated levels ofĪll branched chain amino acids (BCAAs) in all patients. ![]() For one patient with complexĭeletion/duplication mutations, we also performed TOPO TA cloning sequencing. ![]() Changes in these genes are associated with MSUD. We screenedĪll coding regions of the BCKDHA, BCKDHB and DBT genes for abnormalities using direct sequencing. Three newborn males who were diagnosed with MSUD using a standard newborn screening test and amino acid analysis. Have been reported in the Korean population, the genetic background of MSUD is not well understood. Maple syrup urine disease (MSUD) is a rare, autosomal recessive disorder of branched-chain amino acid (BCAA) metabolism causedīy dysfunction of the multienzyme branched-chain alpha-ketoacid dehydrogenase (BCKDH) complex. Medical Center, Sungkyunkwan, University School of Medicine, 50 Irwon-Dong, Gangnam-Gu, Seoul, 135-710, Korea tel +82-2-3410-2709 įax +82-2-3410-2710 e-mail, or Yong-Wha Lee, M.D., Ph.D., Department of Laboratory Medicine and Genetics, Soonchunhyang University Bucheon HospitalĪnd Soonchunhyang University College of Medicine, 1174 Jung-dong, Wonmi-gu, Bucheon, 420-767, Korea tel +82-3
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