Hawkinsinuria in two families

M. Borden, J. Holm, J. Leslie, L. Sweetman, W. L. Nyhan, L. Fleisher, H. Nadler, D. Lewis, C. R. Scott

Research output: Contribution to journalArticlepeer-review

18 Scopus citations

Abstract

Hawkinsinuria, a disorder of tyrosine metabolism has been documented in two families in the United States, in one of which there was clear evidence of autosomal dominant inheritance. Metabolic acidosis and failure to thrive appear to be confined to infancy. Tyrosyl metabolites and 5-oxoproline are also found only in infancy, while 4-hydroxycyclohexylacetic acid was present only with time. The disease may be detected by organic acid analysis or by staining an electropherogram for sulfur containing compounds.

Original languageEnglish (US)
Pages (from-to)52-56
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume44
Issue number1
DOIs
StatePublished - 1992
Externally publishedYes

Keywords

  • autosomal dominant
  • hawkinsinuria
  • metabolic acidosis
  • sulfur-containing amino acids

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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