Type II tyrosinemia: Difference between revisions
No edit summary |
No edit summary |
||
Line 11: | Line 11: | ||
OMIM_mult = | | OMIM_mult = | | ||
MedlinePlus = | | MedlinePlus = | | ||
eMedicineSubj = | eMedicineSubj = | ||
eMedicineTopic = | eMedicineTopic = | | ||
MeshID = D020176 | | MeshID = D020176 | | ||
}} | }} | ||
Line 30: | Line 30: | ||
===Symptoms=== | ===Symptoms=== | ||
Symptoms often begin in early childhood and include [[excessive tearing]], abnormal sensitivity to light ([[photophobia]]), [[eye pain]] and [[eye redness]], and painful skin lesions on the palms and soles. About half of individuals with type II tyrosinemia are also mentally retarded. | Symptoms often begin in early childhood and include [[excessive tearing]], abnormal sensitivity to light ([[photophobia]]), [[eye pain]] and [[eye redness]], and painful skin lesions on the palms and soles. About half of individuals with type II tyrosinemia are also mentally retarded. | ||
{{Amino acid metabolic pathology}} | {{Amino acid metabolic pathology}} | ||
[[Category:Disease]] | |||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Inborn errors of metabolism]] | [[Category:Inborn errors of metabolism]] |
Revision as of 12:46, 28 July 2012
Type II tyrosinemia | |
Tyrosine | |
ICD-10 | E70.2 |
ICD-9 | 270.2 |
OMIM | 276600 |
DiseasesDB | 13486 |
eMedicine | =/topic{{{eMedicineTopic}}}.htm eMedicineTopic =/{{{eMedicineTopic}}} |
MeSH | D020176 |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Type II tyrosinemia is caused by a deficiency of the enzyme tyrosine aminotransferase (EC 2.6.1.5), encoded by the gene TAT.
Pathophysiology
Tyrosine aminotransferase is the first in a series of five enzymes that converts tyrosine to smaller molecules, which are excreted by the kidneys or used in reactions that produce energy. This form of the disorder can affect the eyes, skin, and mental development.
Epidemiology and Demographics
Type II tyrosinemia occurs in fewer than 1 in 250,000 individuals.
Diagnosis
Symptoms
Symptoms often begin in early childhood and include excessive tearing, abnormal sensitivity to light (photophobia), eye pain and eye redness, and painful skin lesions on the palms and soles. About half of individuals with type II tyrosinemia are also mentally retarded.