tyrosinemia type I

tyrosinemia type I

Metabolic disease A rare AR condition due to fumarylacetoacetate hydrolase Clinical Progressive liver dysfunction, cirrhosis, and hepatocellular carcinoma of childhood onset, renal tubular damage, acute porphyria-like neurologic crises Diagnosis ↑ Succinylacetone in prenatal testing, allele-specific oligonucleotide hybridization Management Liver transplant, NTBC– may help 'clear' toxic metabolites
References in periodicals archive ?
This patient has tyrosinemia type I (TYR1) caused by deficiency of fumarylacetoacetate hydrolase [EC.
ALTERED WHEEL RUNNING AND EXPLORATORY ACTIVITY IN A MOUSE MODEL OF TYROSINEMIA TYPE I.
Long-term therapy with NTBC and tyrosine-restricted diet in a murine model of hereditary tyrosinemia type I.
According to a medical report by Dr Siham Al Sinani, Consultant, Paediatric Gastroenterologist and Hepatologist, at the SQU Hospital, Zeid has been diagnosed with Tyrosinemia type I with liver cirrhosis and improved renal fanconi syndrome with rickets.
A medical report of SQU Hospital doctors says the child has been diagnosed with Tyrosinemia type I with liver cirrhosis and improved renal fanconi syndrome with rickets.
Global leader in neonatal diagnostic screening and Italian research hospital collaborate on test for Tyrosinemia Type I, a potentially fatal disorder that is curable if detected early
Tyrosinemia type I (hepatorenal tyrosinemia) is a good candidate for newborn screening (NBS) [3] because its untreated acute form results in death from liver failure during the first year of life (1).
The FDA notified Swedish Orphan International AB based in Stockholm, Sweden that it has granted marketing approval for Orfadin(R) Capsules (nitisinone) an orphan designated product as an adjunct to dietary restriction of tyrosine and phenylalanine in the treatment of Hereditary Tyrosinemia Type I (HTI).
Hepatorenal tyrosinemia, also known as tyrosinemia type I (Tyr-I) is an autosomal recessive inborn error of metabolism.
Tyrosinemia type I (TYR 1; [3] OMIM 276700) is caused by autosomal recessive fumarylacetoacetate hydrolase (EC 3.
The primary enzyme defect in hereditary tyrosinemia type I (HT [1]; McKusick 276700) has been attributed to a deficiency of fumarylacetoacetase (EC 3.