tyrosinemia


Also found in: Dictionary, Thesaurus, Acronyms, Encyclopedia, Wikipedia.
Related to tyrosinemia: tyrosinemia type 2

tyrosinemia

 [ti″ro-sĭ-ne´me-ah]
an aminoacidopathy consisting of defective metabolism of tyrosine and its buildup in the body, as well as urinary excretion of related metabolites. Several forms exist: Type I is an autosomal recessive trait with an acute form that is usually fatal in infancy and a chronic form characterized by chronic liver and kidney disease, rickets, and death in childhood. Type II is an oculocutaneous syndrome with crystallization of accumulated tyrosine in the epidermis as palmoplantar hyperkeratoses and in the corneas as herpetiform ulcers, often accompanied by mental retardation.

ty·ro·si·ne·mi·a

(tī'rō-si-nē'mē-ă), [MIM*276600, *276700, and *276710]
A group of autosomal recessively inherited disorders of tyrosine metabolism associated with elevated blood concentration of tyrosine, and enhanced urinary excretion of tyrosine and tyrosyl compounds. Type I tyrosinemia, due to deficiency of fumarylacetoacetase (FAH), is characterized by hepatosplenomegaly, nodular liver cirrhosis, multiple renal tubular reabsorptive defects, and vitamin D-resistant rickets; caused by mutation in the FAH gene on chromosome 15q. Type II tyrosinemia, due to deficiency of tyrosine aminotransferase (TAT), is characterized by corneal ulcers and keratosis of digits, palms, and soles; caused by mutation in the TAT gene on 16q. Type III tyrosinemia is associated with intermittent ataxia and drowsiness without liver dysfunction and is due to 4-hydroxy-phenylpyruvate dioxygenase (4HPPD) deficiency.
Synonym(s): hypertyrosinemia
[tyrosine + G. haima, blood]

tyrosinemia

/ty·ro·sin·e·mia/ (ti″ro-sĭ-ne´me-ah) an aminoacidopathy of tyrosine metabolism with elevated blood levels of tyrosine and urinary excretion of tyrosine and related metabolites. Type I shows inhibition of some liver enzymes and renal tubular function. Type II is marked by crystallization of the accumulated tyrosine in the epidermis and cornea and is frequently accompanied by mental retardation. Neonatal t. is asymptomatic, transitory, and may result in mild mental retardation. The fourth type is hawkinsinuria .

tyrosinemia

[tī′rōsinē′mē·ə]
Etymology: Gk, tyros + haima, blood
1 a benign, transient condition of the newborn, especially premature infants, in which an excessive amount of the amino acid tyrosine is found in the blood and urine. The disorder is caused by an anomaly in amino acid metabolism, usually delayed development of the enzymes necessary to metabolize tyrosine, and is controlled by dietary measures and vitamin C therapy. The metabolic defect disappears with treatment, or it may disappear spontaneously. Also called neonatal tyrosinemia.
2 a hereditary disorder involving an inborn error of metabolism of the amino acid tyrosine. The condition, which is transmitted as an autosomal-recessive trait, is caused by an enzyme deficiency and results in liver failure or hepatic cirrhosis, renal tubular defects that can lead to renal rickets and renal glycosuria, generalized aminoaciduria, and mental retardation. Treatment consists of a diet low in tyrosine and phenylalanine and high in vitamin C. In severe cases prognosis is extremely poor, and a liver transplantation may be the only lifesaving measure. Also called hereditary tyrosinemia.

ty·ro·si·ne·mi·a

(tī'rō-si-nē'mē-ă) [MIM*276600, *276700, and *276710]
Inherited disorders of tyrosine metabolism associated with elevated blood concentration of tyrosine and enhanced urinary excretion of tyrosine and tyrosyl compounds.
[tyrosine + G. haima, blood]

tyrosinemia (tī´rōsinē´mēə),

n a genetic disorder of amino acid metabolism in which tyrosine acid accumulates in the blood and urine at abnormally high levels; seen primarily in infants born prematurely; may respond to a low-protein diet and the administration of synthetic amino acids.

tyrosinemia

an excess of tyrosine in the blood. Several different types with varying clinical features occur in humans. A syndrome of dermatitis and keratoconjunctivitis resembling tyrosinemia type II of humans (Richner-Hanhart syndrome) occurs in rats fed a diet high in tyrosine, in mink as an inherited disorder (called also pseudodistemper) and it has been reported in a dog.
References in periodicals archive ?
Current strategies for the treatment of hereditary tyrosinemia type I.
39) in a Swedish group measured the excretion of delta-aminolevulinic acid (ALA), porphobilinogen and porphyrins in patients with hepatorenal tyrosinemia who had attacks of polyneuropathy.
A few states also include screening tests for cystic fibrosis, tyrosinemia, additional metabolic conditions, and/or other conditions such as congenital infections (ie, HIV).
of cases (total 40) Idiopathic neonatal hepatits 20 CMV hepatitis 06 PFIC 03 PILBD 03 Choledochal cyst 02 Galactosemia 02 Tyrosinemia 02 Sepsis 02 Table 3: Triangular cord sign in BA and non BA group Biliary Atresia Non biliary atresia Triangular cord sign group (n=25) group (n=40) TC sign >4mm 20 01 TC sign <4mm 05 39 Table 4: HIDA scan in BA and non BA group Biliary atresia Non biliary atresia HIDA Scan group (n=25) group (n=40) Non-excretory (positive) 25 16 Excretory (negative) 0 24 Table 5: correlation of fibrosis score with TC sign Fibrosis score TC sign >4 mm TC sign <4mm Fibrosis score >3 18 01 Fibrosis score <3 02 04
Two of the 29 disorders listed in the screening panel are not included: tyrosinemia type I and hearing loss.
A number of studies suggest DCA-induced liver cancer may be linked to its effects on GST-[xi], which is part of the tyrosine catabolism pathway whose disruption in type 1 hereditary tyrosinemia has been linked to increased liver cancer risk in humans.
The Stockholm-based pharmaceutical company Swedish Orphan International AB has received marketing approval from the US Food and Drug Agency for Orfadin Capsules, its drug for the treatment of Hereditary Tyrosinemia Type I (HTI).
1] deficiency, biliary atresia, obstruction of the biliary tract, and certain disorders such as tyrosinemia, fructosemia, and galactosemia.
The most frequent of these uncommon conditions is Wilson's disease, a familial disorder of copper metabolism Alpha-1-antitrypsin deficiency and tyrosinemia may appear as chronic hepatitis although other features help in distinguishing these rare conditions from those caused by viruses.
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
M2 EQUITYBITES-May 17, 2017-Swedish Orphan Biovitrum AB announces Orfadin capsule approval in Saudi Arabia to treat hereditary tyrosinemia type 1

Full browser ?