Activity of biotin‐dependent and gaba metabolizing enzymes in chorionic villus samples: Potential for 1st trimester prenatal diagnosis

Frances R. Sweetman, Kenneth M. Gibson, Lawrence Sweetman, William L. Nyhan, Homer Chin, William Swartz, Oliver W. Jones

Research output: Contribution to journalArticlepeer-review

18 Scopus citations

Abstract

We have documented the presence of five mitochondrial enzymes in samples of chorionic villus tissue and measured the levels of activity. Three of the enzymes catalyse biotindependent reactions. These are propionyl‐CoA carboxylase, 3‐methylcrotonyl‐CoA carboxylase and pyruvate carboxylase. the other enzymes. 4‐aminobutyric acid aminotransferase and succinic semialdehyde dehydrogenase, are involved inthe degradation of the central inhibitory neurotransmitter GABA. Distinct diseases in whichthere is deficiency of each of these enzymes have been documented in man. Significant levels of activity were observed for all five enzymes in chorionic villus tissue. This methodology should permit early prenatal diagnosis of deficiencies of these enzymes by chorionic villus biopsy in the first trimester.

Original languageEnglish (US)
Pages (from-to)187-194
Number of pages8
JournalPrenatal Diagnosis
Volume6
Issue number3
DOIs
StatePublished - 1986
Externally publishedYes

Keywords

  • Carboxylase
  • Chorionic: villus
  • GABA metabolizing enzymes
  • Prenatal diagnosis

ASJC Scopus subject areas

  • Obstetrics and Gynecology
  • Genetics(clinical)

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