Tyrosinemias
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)
推出的年份: 2000
树号: C10.228.140.163.100.875, C16.320.565.100.880, C16.320.565.189.875, C18.452.132.100.875, C18.452.648.100.880, C18.452.648.189.875
MeSH 单一 ID: D020176
进入的组:
Hypertyrosinemia
Hereditary Tyrosinemias
Tyrosinemias, Hereditary
Hereditary Tyrosinemia
Tyrosinemia, Hereditary
Tyrosinemia
Tyrosinemia, Type III
Type III Tyrosinemia
Type III Tyrosinemias
Tyrosinemias, Type III
Deficiency Disease, 4-Hydroxyphenol Pyruvic Acid Oxidase
Deficiency Disease, 4 Hydroxyphenol Pyruvic Acid Oxidase
4-Hydroxyphenylpyruvate Dioxygenase Deficiency
Deficiencies, 4-Hydroxyphenylpyruvate Dioxygenase
Deficiency, 4-Hydroxyphenylpyruvate Dioxygenase
Dioxygenase Deficiencies, 4-Hydroxyphenylpyruvate
Dioxygenase Deficiency, 4-Hydroxyphenylpyruvate
4-Hydroxyphenol Pyruvic Acid Oxidase Deficiency Disease
4 Hydroxyphenol Pyruvic Acid Oxidase Deficiency Disease
4-Hydroxyphenylpyruvic Acid Oxidase Deficiency
4 Hydroxyphenylpyruvate Dioxygenase Deficiency Disease
Hereditary Tyrosinemia, Type III
Tyrosinemia, Type I
Type I Tyrosinemia
Type I Tyrosinemias
Tyrosinemias, Type I
Fumarylacetoacetase Deficiency Disease
Fumarylacetoacetase Deficiency
Deficiencies, Fumarylacetoacetase
Deficiency, Fumarylacetoacetase
Fumarylacetoacetase Deficiencies
Hypertyrosinemia, Type I
Hypertyrosinemias, Type I
Type I Hypertyrosinemia
Type I Hypertyrosinemias
Tyrosinemia Type 1
Tyrosinemia Type 1s
Hepatorenal Tyrosinemia
Hepatorenal Tyrosinemias
Tyrosinemia, Hepatorenal
Tyrosinemias, Hepatorenal
Hereditary Tyrosinemia, Type I
Deficiency Disease, Fumarylacetoacetase
Deficiency Diseases, Fumarylacetoacetase
Disease, Fumarylacetoacetase Deficiency
Diseases, Fumarylacetoacetase Deficiency
Fumarylacetoacetase Deficiency Diseases
Tyrosinemia, Type II
Type II Tyrosinemia
Type II Tyrosinemias
Tyrosinemias, Type II
Deficiency Disease, Tyrosine Transaminase
Hereditary Tyrosinemia, Type II
Richner-Hanhart Syndrome
Richner Hanhart Syndrome
Richner-Hanhart Syndromes
Syndrome, Richner-Hanhart
Syndromes, Richner-Hanhart
Tat Deficiency
Deficiencies, Tat
Deficiency, Tat
Tat Deficiencies
Tyrosinemia, Type 2
2 Tyrosinemias, Type
Type 2 Tyrosinemia
Type 2 Tyrosinemias
Tyrosinemias, Type 2
Tyrosine Transaminase Deficiency
Keratosis Palmoplantaris with Corneal Dystrophy
Oregon Type Tyrosinemia
Richner-Hanhart Syndrome, Tyrosinosis, Oculocutaneous Type
Tyrosine Aminotransferase Deficiency
Tyrosine Transaminase Deficiency Disease
Tyrosinosis, Oculocutaneous Type
Oculocutaneous Type Tyrosinoses
Oculocutaneous Type Tyrosinosis
Type Tyrosinoses, Oculocutaneous
Type Tyrosinosis, Oculocutaneous
Tyrosinoses, Oculocutaneous Type
早前的内容:
Amino Acid Metabolism, Inborn Errors (1967-1999)
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