Laboratory diagnosis of medium-chain acyl-coenzyme a dehydrogenase deficiency by the amplification refractory mutation system

M. Y. Tsai, K. Schwichtenberg, M. Tuchman

Research output: Contribution to journalArticlepeer-review

6 Scopus citations

Abstract

We used the amplification refractory mutation system (ARMS)-a polymerase- chain-reaction-based method-to detect the 985 A-to-G mutation of the gene coding for the enzyme medium-chain acyl-CoA dehydrogenase (MCAD). The 985 A- to-G allele is thought to account for ~89% of the mutant alleles in this disorder and at least one copy was reported to be present in 98% of affected individuals. ARMS provided a simple and robust method that reliably identified the 985 A-to-G mutant allele in patients either homozygous or heterozygous for this allele. Combined with organic acid analysis, ARMS can provide definitive diagnosis for the great majority of the patients with MCAD deficiency. The method, therefore, should be useful in clinical laboratories involved with the diagnosis of inborn errors of metabolism.

Original languageEnglish (US)
Pages (from-to)280-283
Number of pages4
JournalClinical chemistry
Volume39
Issue number2
DOIs
StatePublished - Jan 1 1993

Keywords

  • gene probes
  • heritable disorders
  • polymerase chain reaction

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