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.
Deranged Liver Function in a Neonate
ALTERED WHEEL RUNNING AND EXPLORATORY ACTIVITY IN A MOUSE MODEL OF TYROSINEMIA TYPE I.
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.
Tyrosinemia type 1: an overview of nursing care
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.
Father seeks help to save son
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.
Expat father seeks help for his son's life-saving surgery
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
PerkinElmer and the Meyer Children's Hospital of Florence Co-Develop Early Diagnostic for Lethal Genetic Metabolic Disease Affecting Newborns
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).
Preliminary proficiency testing results for Succinylacetone in dried blood spots for newborn screening for 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).
FDA Approves Drug to Treat Rare Pediatric Liver Disease
Hepatorenal tyrosinemia, also known as tyrosinemia type I (Tyr-I) is an autosomal recessive inborn error of metabolism.
Enhancing newborn screening for tyrosinemia type I
Tyrosinemia type I (TYR 1; [3] OMIM 276700) is caused by autosomal recessive fumarylacetoacetate hydrolase (EC 3.
Combined newborn screening for succinylacetone, amino acids, and acylcarnitines in dried blood spots
The pathophysiology and treatment of hereditary tyrosinemia type I.
Newborn screening for hepatorenal tyrosinemia: tandem mass spectrometric quantification of succinylacetone
The primary enzyme defect in hereditary tyrosinemia type I (HT [1]; McKusick 276700) has been attributed to a deficiency of fumarylacetoacetase (EC 3.
Spectrophotometric microassay for [delta]-aminolevulinate dehydratase in dried-blood spots as confirmation for hereditary tyrosinemia type I
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