• DOI:10.1111/j.1442-200X.2008.02610.x
• Corpus ID: 20991833

Early diagnosis of maple syrup urine disease using polymerase chain reaction‐based mutation detection

@article{Silao2008EarlyDO,
  title={Early diagnosis of maple syrup urine disease using polymerase chain reaction‐based mutation detection},
  author={Catherine Lynn Silao and Carmencita Padilla and Masafumi Matsuo},
  journal={Pediatrics International},
  year={2008},
  volume={50}
}

• C. Silao, C. Padilla, M. Matsuo
• Published 1 June 2008
• Medicine
• Pediatrics International

Background: Maple syrup urine disease (MSUD) is an autosomal recessive disorder caused by defective activity of the branched‐chain α‐ketoacid dehydrogenase enzyme complex. Early diagnosis and management of MSUD are imperative for preventing permanent neurological impairments. In the Philippines, a 4.7 kb deletion in the dihydrolipoamide branched‐chain transacylase E2 (DBT) gene has been commonly identified in MSUD patients. Polymerase chain reaction (PCR) amplification of a junction fragment between intron 10 and exon 11 has been used to detect this deletion. The purpose of the present paper was to use PCR‐based mutation detection of the deletion mutation to diagnose MSUD in neonates in order to provide proper diagnosis and effective treatment.