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Hydrolases tyrosinemia

The probable metabohc defect in type I tyrosine-mia (tyrosinosis) is at himarylacetoacetate hydrolase (reaction 4, Figure 30-12). Therapy employs a diet low in tyrosine and phenylalanine. Untreated acute and chronic tyrosinosis leads to death from liver failure. Alternate metabolites of tyrosine are also excreted in type II tyrosinemia (Richner-Hanhart syndrome), a defect in tyrosine aminotransferase (reaction 1, Figure 30-12), and in neonatal tyrosinemia, due to lowered y>-hydroxyphenylpyruvate hydroxylase activity (reaction 2, Figure 30-12). Therapy employs a diet low in protein. [Pg.255]

Leptospermone (34), a representative of an important new class of herbicides from the bottlebrush plant, Callistemon citrinus (Curtis) Skeels, has been found to have an inhibitory effect on the enzyme, -hydroxyphenylpyruvate dioxygenase (HPPD), involved in the synthesis of plastoquinone in plants. Nitisinone (35), a synthetic derivative of (34), has recently been introduced to the market for the treatment of hereditary tyrosinemia type 1 (HT-1), a severe genetic disease caused by a deficiency of fumaryl acetoacetate hydrolase (FAH). ... [Pg.26]

SAH hydrolase deficiency CBS deficiency Tyrosinemia type 1 Liver disease Severe protein malnutrition... [Pg.86]

Tyrosinosis is presumably due to fumarylacetoacetate hydrolase deficiency and has a high prevalence in the French-Canadian population of Quebec. It is associated with abnormal liver function, renal tubular dysfunction, anemia, and vitamin D-resistant rickets. Transient tyrosinemia of the newborn, particularly in premature infants, is the most common form of tyrosinemia in infancy. [Pg.360]

Tyrosinemia I (also called tyrosinosis) is caused by a genetic deficiency of fumary-lacetoacetate hydrolase. The acute form is associated with liver failure, a cabbagelike odor, and death within the first year of life. [Pg.725]

Tyrosine Fumarylacetoacetate hydrolase Fumarylacetoacetate Tyrosinemia 1 Liver failure, death early... [Pg.730]

Fig. 20.1 Major catabolic pathway for phenylalanine and tyrosine. The loci of known enzymatic defects are indicated by dashed lines. Note that hereditary tyrosinemia is now believed to be due to fumarylacetoacetate hydrolase, the final step in the pathway. (Redrawn with modifications from Mazur A, Harrow B Textbook of Biochemistry. WB Saunders, Philadelphia, 1971)... Fig. 20.1 Major catabolic pathway for phenylalanine and tyrosine. The loci of known enzymatic defects are indicated by dashed lines. Note that hereditary tyrosinemia is now believed to be due to fumarylacetoacetate hydrolase, the final step in the pathway. (Redrawn with modifications from Mazur A, Harrow B Textbook of Biochemistry. WB Saunders, Philadelphia, 1971)...
Tyrosinemia type I Fumarylacetoacetate hydrolase Increased blood phenylalanine and tyrosine increased alpha-fetoprotein urinary succinylacetone Liver failure rentil tubular acidosis, failure to thrive, vomiting, diarrhea, rickets, porphyria-like crises, hepatic carcinoma Phenylalanine and tyrosine restriction (diet used in conjunction with NTBC or until liver transplantation is possible) None... [Pg.324]


See other pages where Hydrolases tyrosinemia is mentioned: [Pg.59]    [Pg.483]    [Pg.1430]    [Pg.654]    [Pg.603]    [Pg.603]    [Pg.517]    [Pg.496]    [Pg.152]   
See also in sourсe #XX -- [ Pg.255 ]




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Tyrosinemia

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