These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: Deficiency of fumarylacetoacetase without hereditary tyrosinemia.
    Author: Kvittingen EA, Børresen AL, Stokke O, van der Hagen CB, Lie SO.
    Journal: Clin Genet; 1985 Jun; 27(6):550-4. PubMed ID: 4017276.
    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.
    [Abstract] [Full Text] [Related] [New Search]