Results 101 to 110 of about 1,641 (186)
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 +1 more source
Control of Alkaptonuria with Nitisinone and Gene Therapy: A Systematic Review [PDF]
SSRN Electronic Journal, 2019 Alkaptonuria (AKU) is a genetic disorder inherited in accordance with Mendel first law. Mutations in the HGA gene result in the AKU disorder. Three major features of this disorder: arthritis, ochronosis, and the presence of Homogentisic Acid (HGA) in the urine.
openaire +1 more source
Studies in alkaptonuria reveal new roles beyond drug clearance for phase I and II biotransformations in tyrosine metabolism [PDF]
Background and Purposealkaptonuria (AKU) is an inherited disorder of tyrosine metabolism caused by lack of the enzyme homogentisate 1,2-dioxygenase (HGD).
Berry, Neil G +12 more
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Nitisinone-Induced Keratopathy in Alkaptonuria: A Challenging Diagnosis Despite Clinical Suspicion [PDF]
, 2017 Alkaptonuria is a rare disorder of amino acid metabolism that causes premature large joint and spine arthropathy and cardiac valvular disease. It is characterised by elevated levels of homogentisic acid. Nitisinone (NTBC) is a benzoylcyclohexane-1,3-dione that reversibly inhibits the activity of the enzymatic step immediately prior to homogentisate ...
Andrew, White, Michel, C Tchan
openaire +2 more sources
Alkaptonuria: a rare disease with multiorgan manifestation and a long-awaited diagnosis. [PDF]
BMJ Case RepAlkaptonuria is a rare inherited disease resulting from a genetic variant leading to homogentisic acid accumulation in body tissues, causing a broad spectrum of symptoms. Our case involves a Caucasian male diagnosed in his 70s, who shares a constellation
Gundersen AD +3 more
europepmc +3 more sources
, 2013 Alkaptonuria (AKU) is an autosomal recessive inborn error metabolism resulting from deficiency of homogentisic acid oxidase (homogentisate 1, 2-dioxygenase) that is required in the metabolism of phenylalanine and tyrosine during the step when ...
Nelwan, Martin L.
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Molecular Genetics and Metabolism Reports, 2017 Introduction: Tyrosinemia Type 1 (HT1) is an autosomal recessive disorder caused by a defect in the enzyme fumarylacetoacetate hydroxylase in the tyrosine pathway.
María Ignacia García +4 more
doaj +1 more source
Long-Term Outcomes and Practical Considerations in the Pharmacological Management of Tyrosinemia Type 1 [PDF]
, 2019 Tyrosinemia type 1 (TT1) is a rare metabolic disease caused by a defect in tyrosine catabolism. TT1 is clinically characterized by acute liver failure, development of hepatocellular carcinoma, renal and neurological problems, and consequently an ...
Harding, Cary O +5 more
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A clinical case of late diagnosis of a chronic type I tyrosinemia
Consilium MedicumTyrosinemia type 1 is a genetic disease mainly of the first months and years of life caused by a violation of normal tyrosine catabolism with the formation of final toxic metabolites that have a direct damaging effect on the liver and kidneys with the ...
Natalia V. Chebotareva +6 more
doaj +1 more source
Clinical Features of 29 Patients with Hereditary Tyrosinemia I in Western Turkey
Journal of Pediatric Research, 2018 Aim:The aim of this study was to investigate the long-term outcome of hereditary tyrosinemia Type I (HTI) patients treated with 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC) to increase knowledge about the clinical outcome in these ...
Havva Yazıcı +5 more
doaj +1 more source