Unveiling the unexpected: refractory rickets as an uncommon presentation of tyrosinemia type I [PDF]
BMC PediatricsBackground Tyrosinemia type I is a rare autosomal recessive inborn error of metabolism caused by deficiency of fumarylacetoacetate hydrolase (FAH), an enzyme essential for the final breakdown of tyrosine.
Meenakshi B. Ramanna +2 more
doaj +3 more sources
A Case Report of a Very Rare Association of Tyrosinemia type I and Pancreatitis Mimicking Neurologic Crisis of Tyrosinemia Type I [PDF]
Balkan Medical Journal, 2016 Background: Tyrosinemia type I is an autosomal recessively inherited metabolic disease of tyrosine metabolism due to the deficiency of fumarylacetoacetate hydrolase.
Habibe Koç Uçar +4 more
doaj +7 more sources
The Importance of Succinylacetone: Tyrosinemia Type I Presenting with Hyperinsulinism and Multiorgan Failure Following Normal Newborn Screening [PDF]
International Journal of Neonatal Screening, 2020 Tyrosinemia type I (TT1) is an inborn error of tyrosine metabolism with features including liver dysfunction, cirrhosis, and hepatocellular carcinoma; renal dysfunction that may lead to failure to thrive and bone disease; and porphyric crises. Once fatal
Jessica R. C. Priestley +8 more
doaj +4 more sources
Genetically blocking HPD via CRISPR-Cas9 protects against lethal liver injury in a pig model of tyrosinemia type I [PDF]
Molecular Therapy: Methods & Clinical Development, 2021 Hereditary tyrosinemia type I (HT1) results from the loss of fumarylacetoacetate hydrolase (FAH) activity and can lead to lethal liver injury (LLI). Therapeutic options for HT1 remain limited.
Peng Gu +12 more
doaj +3 more sources
Tyrosinemia type I: an unusual case presentation
Journal of Biochemical and Clinical Genetics, 2022 Background: Hereditary tyrosinemia type 1 (HT1) is an autosomal recessive inherited metabolic disorder caused by the fumerylacetoacetate hydrolase enzyme deficiency. It is characterized by liver dysfunction and/ or failure, renal tubular dysfunction.
Marwa ALMahroos, Mohammed AlMannai
doaj +3 more sources
Tyrosinemia Type I and Reversible Neurogenic Crisis After a One-Month Interruption of Nitisinone
Journal of Pediatric Research, 2018 Hereditary tyrosinemia Type I (HTI) is an autosomal recessive disorder due to a deficiency of the enzyme fumarylacetoacetate hydrolase. The liver is the primary organ that is affected and comorbidities with renal and neurologic systems and hepatocellular
Havva Yazıcı +6 more
doaj +2 more sources
Stem Cell Research, 2021 Here we describe the generation of induced pluripotent stem cells (iPSCs) from a patient diagnosed as hereditary tyrosinemia type I (HT1) caused by FAH gene mutation.
Haiyan Zhang +7 more
doaj +2 more sources
Casein Glycomacropeptide: An Alternative Protein Substitute in Tyrosinemia Type I. [PDF]
Nutrients, 2021 Daly A +4 more
europepmc +3 more sources
A missense mutation (Q279R) in the Fumarylacetoacetate Hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation [PDF]
BMC Genetics, 2001 Background Tyrosinemia type I, the most severe disease of the tyrosine catabolic pathway is caused by a deficiency in fumarylacetoacetate hydrolase (FAH).
Baklouti Faouzi +5 more
doaj +3 more sources