Genetic counseling issues in urea cycle disorders

Crit Care Clin. 2005 Oct;21(4 Suppl):S37-44. doi: 10.1016/j.ccc.2005.08.001.

Abstract

The goal of counseling families that have a urea cycle disorder (UCD) is to facilitate the process of scientific understanding, emotional acceptance, and decision-making in a nondirective way. A proper understanding of the genes involved, inheritance patterns, available testing, and complicating factors is critical to serving the families' needs. This article summarizes the needed information, in particular describing the complexities of prenatal testing and counseling issues for each UCD. Included case histories illustrate the genetic counseling process and the decision-making scenarios for two families.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Adult
  • Amino Acid Metabolism, Inborn Errors / diagnosis
  • Amino Acid Metabolism, Inborn Errors / genetics*
  • Carbamoyl-Phosphate Synthase I Deficiency Disease / diagnosis
  • Carbamoyl-Phosphate Synthase I Deficiency Disease / genetics
  • Chromosome Mapping
  • DNA Mutational Analysis
  • Female
  • Genetic Counseling*
  • Humans
  • Inheritance Patterns
  • Male
  • Ornithine Carbamoyltransferase Deficiency Disease / diagnosis
  • Ornithine Carbamoyltransferase Deficiency Disease / genetics
  • Pregnancy
  • Prenatal Diagnosis / methods
  • Urea / metabolism*

Substances

  • Urea