Mildly elevated succinylacetone and normal liver function in compound heterozygotes with pathogenic and pseudodeficient FAH alleles

Mildly elevated succinylacetone and normal liver function in compound heterozygotes with pathogenic and pseudodeficient FAH alleles

Background: A high level of succinylacetone (SA) in blood is a sensitive, specific marker for the screening and diagnosis of hepatorenal tyrosinemia (HT1, MIM 276700). HT1 is caused by mutations in the FAH gene, resulting in deficiency of fumarylacetoacetate hydrolase. HT1 newborns are usually clini...

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Bibliographic Details
Main Authors: Hao Yang, Francis Rossignol, Denis Cyr, Rachel Laframboise, Shu Pei Wang, Jean-François Soucy, Marie-Thérèse Berthier, Yves Giguère, Paula J. Waters, Grant A. Mitchell
Format: Article
Language:English
Published: Elsevier 2018-03-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Tyrosinemia
Hypersuccinylacetonemia
Fah
Fumarylacetoacetate hydrolase
Nitisinone
Pseudodeficiency
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426917301635

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http://www.sciencedirect.com/science/article/pii/S2214426917301635

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