PRA- UND POSTNATALE DIAGNOSTIK DER ORGANOAZIDOPATHIEN

Translated title of the contribution: Pre- and postnatal diagnosis of organoacidopathies

G. F. Hoffmann, C. Jakobs, D. Rating, L. Sweetman, F. K. Trefz

Research output: Contribution to journalArticlepeer-review

Abstract

Organoacidopathies are the most common life-threatening inborn errors of metabolism presenting acutely in the neonatal period. Early diagnosis rests on a high degree of suspicion. Clinical and laboratory findings are often nonspecific and can be misinterpreted. We present an algorithm for a quick and comprehensive diagnosis of these disorders using commonly available parameters. Different methods for the prenatal diagnosis of organoacidopathies are discussed and our experience with over 150 cases presented. The method of choice is the precise quantification of elevated levels of metabolites in amniotic fluid obtained by amniocentesis at 12-18 weeks of pregnancy. Quantification is best done by stable isotope dilution analysis with the addition of the labelled metabolite to the amniotic fluid. A positive prenatal diagnosis allows a decision of the family for a termination of pregnancy or the immediate institution of therapy after birth. The conduction of a prenatal diagnosis requires the knowledge of the exact diagnosis of a previously affected child.

Translated title of the contributionPre- and postnatal diagnosis of organoacidopathies
Original languageGerman
Pages (from-to)381-388
Number of pages8
JournalMonatsschrift fur Kinderheilkunde
Volume138
Issue number7
StatePublished - 1990
Externally publishedYes

Keywords

  • diagnostic algorithm
  • inborn errors of metabolism
  • incidence
  • Organoacidopathies
  • prenatal diagnosis

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Surgery

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