Deficiency of fumarylacetoacetase without hereditary tyrosinemia

E. A. Kvittingen, Anne-Lise Borresen-Dale, O. Stokke, C. B.van der Hagen, S. O. Lie

Research output: Contribution to journalArticle

9 Citations (Scopus)

Abstract

A variant of the enzyme fumarylacetoacetase (FAH) (E.C.3.7.1.2) in healthy individuals, determined by the enzyme activity, is reported. Analysis of family members of probands with low FAH activity suggests that the enzyme variant causing low activity could be the product of a pseudodeficiency gene. Assumed homozygotes for this gene have only slightly higher enzyme activity than patients with the metabolic disorder hereditary tyrosinemia I (hepatorenal type). No clinical abnormalities have been found in association with the postulated gene.

Original languageEnglish (US)
Pages (from-to)550-554
Number of pages5
JournalClinical Genetics
Volume27
Issue number6
DOIs
StatePublished - Jan 1 1985

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Tyrosinemias
Enzymes
Genes
Homozygote

Keywords

  • Fumarylacetoacetase
  • genetic variants
  • tyrosinemia

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Deficiency of fumarylacetoacetase without hereditary tyrosinemia. / Kvittingen, E. A.; Borresen-Dale, Anne-Lise; Stokke, O.; Hagen, C. B.van der; Lie, S. O.

In: Clinical Genetics, Vol. 27, No. 6, 01.01.1985, p. 550-554.

Research output: Contribution to journalArticle

Kvittingen, E. A. ; Borresen-Dale, Anne-Lise ; Stokke, O. ; Hagen, C. B.van der ; Lie, S. O. / Deficiency of fumarylacetoacetase without hereditary tyrosinemia. In: Clinical Genetics. 1985 ; Vol. 27, No. 6. pp. 550-554.
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