Biomaterial Database

Pathology teach and tell: chronic-onset hereditary tyrosinemia type I. 2001

J F Pohl, and C Hughes, and M K Farrell

Department of Pediatric Gastroenterology and Nutrition, Children's Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, Ohio 45229-3039, USA.

UI	MeSH Term	Description	Entries
D007223	Infant	A child between 1 and 23 months of age.	Infants
D008297	Male		Males
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D020176	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)	4 Hydroxyphenylpyruvate Dioxygenase Deficiency Disease,Fumarylacetoacetase Deficiency Disease,Tyrosine Transaminase Deficiency Disease,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