Evidence for x-linked dominant inheritance of ornithine transcarbamylase deficiency

N Engl J Med. 1973 Jan 4;288(1):7-12. doi: 10.1056/NEJM197301042880102.
No abstract available

MeSH terms

  • Adult
  • Amino Acid Metabolism, Inborn Errors / diagnosis
  • Amino Acid Metabolism, Inborn Errors / genetics*
  • Amino Acid Metabolism, Inborn Errors / therapy
  • Ammonia / blood
  • Biopsy, Needle
  • Diet Therapy
  • Dietary Proteins
  • Female
  • Genes, Dominant*
  • Heterozygote
  • Humans
  • Infant, Newborn
  • Infant, Newborn, Diseases / diagnosis
  • Liver / enzymology
  • Male
  • Mutation
  • Ornithine Carbamoyltransferase / metabolism*
  • Pedigree
  • Sex Chromosomes*
  • Sex Factors

Substances

  • Dietary Proteins
  • Ammonia
  • Ornithine Carbamoyltransferase