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 DeCS Categories

C10 Nervous System Diseases .
C10.228 Central Nervous System Diseases .
C10.228.140 Brain Diseases .
C10.228.140.163 Brain Diseases, Metabolic .
C10.228.140.163.100 Brain Diseases, Metabolic, Inborn .
C10.228.140.163.100.875 Tyrosinemias .
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities .
C16.320 Genetic Diseases, Inborn .
C16.320.565 Metabolism, Inborn Errors .
C16.320.565.100 Amino Acid Metabolism, Inborn Errors .
C16.320.565.100.880 Tyrosinemias .
C16.320.565.189 Brain Diseases, Metabolic, Inborn .
C16.320.565.189.875 Tyrosinemias .
C18 Nutritional and Metabolic Diseases .
C18.452 Metabolic Diseases .
C18.452.132 Brain Diseases, Metabolic .
C18.452.132.100 Brain Diseases, Metabolic, Inborn .
C18.452.132.100.875 Tyrosinemias .
C18.452.648 Metabolism, Inborn Errors .
C18.452.648.100 Amino Acid Metabolism, Inborn Errors .
C18.452.648.100.880 Tyrosinemias .
C18.452.648.189 Brain Diseases, Metabolic, Inborn .
C18.452.648.189.875 Tyrosinemias .
D08 Enzymes and Coenzymes .
D08.811 Enzymes .
D08.811.682 Oxidoreductases .
D08.811.682.690 Oxygenases .
D08.811.682.690.416 Dioxygenases .
D08.811.682.690.416.330 4-Hydroxyphenylpyruvate Dioxygenase .
 
 Terms
 Synonyms & Historicals
Documents
LILACS e MDL
 
4-Hydroxyphenylpyruvate Dioxygenase .
Dioxygenase, 4-Hydroxyphenylpyruvate .
Hydroxylase, P-Hydroxyphenylpyruvate .
Hydroxylase, para-Hydroxyphenylpyruvate .
Oxidase, P-Hydroxyphenylpyruvate .
Oxidase, para-Hydroxyphenylpyruvate .
P Hydroxyphenylpyruvate Hydroxylase .
P Hydroxyphenylpyruvate Oxidase .
para Hydroxyphenylpyruvate Hydroxylase .
para Hydroxyphenylpyruvate Oxidase .
P-Hydroxyphenylpyruvate Hydroxylase .
P-Hydroxyphenylpyruvate Oxidase .
para-Hydroxyphenylpyruvate Hydroxylase .
para-Hydroxyphenylpyruvate Oxidase .
An enzyme that catalyzes the conversion of 4-hydroxyphenylpyruvate plus oxygen to homogentisic acid and carbon dioxide. EC 1.13.11.27. .
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Tyrosinemias .
4-Hydroxyphenol Pyruvic Acid Oxidase Deficiency Disease .
4-Hydroxyphenylpyruvate Dioxygenase Deficiency .
4-Hydroxyphenylpyruvic Acid Oxidase Deficiency .
Deficiency Disease, 4-Hydroxyphenol Pyruvic Acid Oxidase .
Deficiency Disease, Fumarylacetoacetase .
Deficiency Disease, Tyrosine Transaminase .
Fumarylacetoacetase Deficiency .
Hepatorenal Tyrosinemia .
Hereditary Tyrosinemia, Type I .
Hereditary Tyrosinemia, Type II .
Hereditary Tyrosinemia, Type III .
Hereditary Tyrosinemias .
Hypertyrosinemia .
Hypertyrosinemia, Type I .
Keratosis Palmoplantaris with Corneal Dystrophy .
Oregon Type Tyrosinemia .
Richner-Hanhart Syndrome .
Richner-Hanhart Syndrome, Tyrosinosis, Oculocutaneous Type .
Tat Deficiency .
Tyrosine Aminotransferase Deficiency .
Tyrosine Transaminase Deficiency .
Tyrosinemia .
Tyrosinemia Type 1 .
Tyrosinemia, Type 2 .
Tyrosinemia, Type I .
Tyrosinemia, Type II .
Tyrosinemia, Type III .
Tyrosinemias, Hereditary .
Tyrosinosis, Oculocutaneous Type .
2 Tyrosinemias, Type .
4 Hydroxyphenol Pyruvic Acid Oxidase Deficiency Disease .
Deficiencies, 4-Hydroxyphenylpyruvate Dioxygenase .
Deficiencies, Fumarylacetoacetase .
Deficiencies, Tat .
Deficiency Disease, 4 Hydroxyphenol Pyruvic Acid Oxidase .
Deficiency Diseases, Fumarylacetoacetase .
Deficiency, 4-Hydroxyphenylpyruvate Dioxygenase .
Deficiency, Fumarylacetoacetase .
Deficiency, Tat .
Dioxygenase Deficiencies, 4-Hydroxyphenylpyruvate .
Dioxygenase Deficiency, 4-Hydroxyphenylpyruvate .
Disease, Fumarylacetoacetase Deficiency .
Diseases, Fumarylacetoacetase Deficiency .
Fumarylacetoacetase Deficiencies .
Fumarylacetoacetase Deficiency Diseases .
Hepatorenal Tyrosinemias .
Hereditary Tyrosinemia .
Hypertyrosinemias, Type I .
Oculocutaneous Type Tyrosinoses .
Oculocutaneous Type Tyrosinosis .
Richner Hanhart Syndrome .
Richner-Hanhart Syndromes .
Syndrome, Richner-Hanhart .
Syndromes, Richner-Hanhart .
Tat Deficiencies .
Type 2 Tyrosinemia .
Type 2 Tyrosinemias .
Type I Hypertyrosinemia .
Type I Hypertyrosinemias .
Type I Tyrosinemia .
Type I Tyrosinemias .
Type II Tyrosinemia .
Type II Tyrosinemias .
Type III Tyrosinemia .
Type III Tyrosinemias .
Type Tyrosinoses, Oculocutaneous .
Type Tyrosinosis, Oculocutaneous .
Tyrosinemia Type 1s .
Tyrosinemia, Hepatorenal .
Tyrosinemia, Hereditary .
Tyrosinemias, Hepatorenal .
Tyrosinemias, Type 2 .
Tyrosinemias, Type I .
Tyrosinemias, Type II .
Tyrosinemias, Type III .
Tyrosinoses, Oculocutaneous Type .
Fumarylacetoacetase Deficiency Disease .
Tyrosine Transaminase Deficiency Disease .
4 Hydroxyphenylpyruvate Dioxygenase Deficiency Disease .
A group of disorders which have in common elevations of tyrosine in the blood and urine secondary to an enzyme deficiency. Type I tyrosinemia features episodic weakness, self-mutilation, hepatic necrosis, renal tubular injury, and seizures and is caused by a deficiency of the enzyme fumarylacetoacetase. Type II tyrosinemia features INTELLECTUAL DISABILITY, painful corneal ulcers, and keratoses of the palms and plantar surfaces and is caused by a deficiency of the enzyme TYROSINE TRANSAMINASE. Type III tyrosinemia features INTELLECTUAL DISABILITY and is caused by a deficiency of the enzyme 4-HYDROXYPHENYLPYRUVATE DIOXYGENASE. (Menkes, Textbook of Child Neurology, 5th ed, pp42-3) .
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