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Illness finder is a diagnostic medicine tool for educational purpose that looks up your patients' health conditions or symptoms and diagnosis and find diseases or illnesses based on chosen gender, age, risk factors, illness, signs, symptoms and prevalence. Illnessfinder is inspired by Evidence based medicine (EMB) and healthcare that aims to apply the best (most reliable) knowledge that is available at decision time. Illnessfinder aims to free up time for the therapeutic dialogue and ensure quality at the evidence based practice, uniting proven medical findings and clinical evidence with systematised data technology.
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| Tyrosinemias | Legal notice |
Other terms
Tyrosinemia,Tyrosinemias, Hereditary,Hereditary Tyrosinemia,Hereditary Tyrosinemias,Tyrosinemia, Hereditary,Tyrosinemia, Type II,Type II Tyrosinemia,Type II Tyrosinemias,Tyrosinemias, Type II,Hereditary Tyrosinemia, Type II,Deficiency Disease, Tyrosine Transaminase,Tyrosine Transaminase Deficiency Disease,Tyrosinemia, Type III,Type III Tyrosinemia,Type III Tyrosinemias,Tyrosinemias, Type III,Hereditary Tyrosinemia, Type III,Deficiency Disease, 4-Hydroxyphenol Pyruvic Acid Oxidase,Deficiency Disease, 4 Hydroxyphenol Pyruvic Acid Oxidase,4 Hydroxyphenylpyruvate Dioxygenase Deficiency Disease,4-Hydroxyphenol Pyruvic Acid Oxidase Deficiency Disease,4 Hydroxyphenol Pyruvic Acid Oxidase Deficiency Disease,Tyrosinemia, Type I,Type I Tyrosinemia,Type I Tyrosinemias,Tyrosinemias, Type I,Hypertyrosinemia, Type I,Hypertyrosinemias, Type I,Type I Hypertyrosinemia,Type I Hypertyrosinemias,Hereditary Tyrosinemia, Type I,Deficiency Disease, Fumarylacetoacetase,Fumarylacetoacetase Deficiency Disease,Deficiency Diseases, Fumarylacetoacetase,Disease, Fumarylacetoacetase Deficiency,Diseases, Fumarylacetoacetase Deficiency,Fumarylacetoacetase Deficiency Diseases
Description
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 mental retardation, 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 mental retardation 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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- Brain Diseases, Metabolic, Inborn
- Amino Acid Metabolism, Inborn Errors
- Brain Diseases, Metabolic, Inborn
- Amino Acid Metabolism, Inborn Errors
- Brain Diseases, Metabolic, Inborn
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