Partial ornithine transcarbamylase deficiency associated with recurrent hyperammonemia, lethargy and depressed sensorium

Jun Oizumi, Won G. Ng, Richard Koch, Kenneth N.F. Shaw, Lawrence Sweetman, Antonio Velazquez, George N. Donnell

Research output: Contribution to journalArticlepeer-review

8 Scopus citations

Abstract

A 6‐year‐old boy presented with recurrent coma associated with hyperammonemia and infection is reported. A liver biopsy revealed decreased ornithine transcarbamylase (OTC) activity (16% of normal). The enzymatic abnormality in the child is supported by the finding of elevated orotic acid excretion in his mother following a protein load, compatible with an X‐linked pattern of inheritance. Since initiation of a dietary arginine supplement, the child has not had recurrent episodes of hyperammonemia.

Original languageEnglish (US)
Pages (from-to)538-542
Number of pages5
JournalClinical Genetics
Volume25
Issue number6
DOIs
StatePublished - Jun 1984
Externally publishedYes

Keywords

  • Hyperammonemia
  • ornithine transcarbamylase (OTC)
  • orotic acid

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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