Phenotype, genotype, and outcome of 25 Palestinian patients with hereditary tyrosinemia type 1.

ABSTRACT:

Background

Tyrosinemia type 1 (hepatorenal tyrosinemia, HT1) is a rare autosomal recessive inborn error of tyrosine metabolism caused by deficiency of the last enzyme in the tyrosine catabolic pathway, fumarylacetoacetate hydrolase (FAH) leading to severe hepatic, renal and peripheral nerve damage if left untreated. Early treatment may prevent acute liver failure, renal dysfunction, liver cirrhosis, hepatocellular carcinoma (HCC) and improves survival.

Material and methods

A retrospective single center study was carried out based on the clinical and biochemical presentation, therapy and outcome of 25 Palestinian patients with HT1 diagnosed during the last 25 years.

Results

HT1 is not included in newborn screening program in Palestine. The mean age at diagnosis was 8 m

SUBMITTER: Dweikat I 

PROVIDER: S-EPMC7868710 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature