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 ?
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.
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).
Both tyrosine and succinylacetone (SUAC) accumulate in the blood of patients with tyrosinemia type I; however, measuring tyrosine alone is neither diagnostically specific nor sensitive enough to serve as an NBS test for tyrosinemia type I (5).
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
a global leader focused on the health and safety of people and the environment, and the Meyer Children's Hospital of Florence, a leading Italian research center, today announced their successful collaboration in developing an early stage neonatal diagnostic test for Tyrosinemia Type I, a rare metabolic genetic disease that is lethal if untreated, but curable if detected early.
Hepatorenal tyrosinemia, also known as tyrosinemia type I (Tyr-I) is an autosomal recessive inborn error of metabolism.
Long-term therapy with NTBC and tyrosine-restricted diet in a murine model of hereditary tyrosinemia type I.
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).
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.