Tyrosinemia type II

Tyrosinemia type II
Classification and external resources
Tyrosine
ICD-10	E70.2
ICD-9	270.2
OMIM	276600
DiseasesDB	13486
eMedicine	ped/2339
MeSH	D020176

Tyrosinemia type II (Oculocutaneous tyrosinemia,^[1] Richner-Hanhart syndrome^[1]:543) is an autosomal recessive condition with onset between ages 2 and 4 years, when painful circumscribed calluses develop on the pressure points of the palm of the hand and sole of the foot.^[2]:512

Pathophysiology

Type II tyrosinemia is caused by a deficiency of the enzyme tyrosine aminotransferase (EC 2.6.1.5), encoded by the gene TAT. 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. Symptoms often begin in early childhood and include excessive tearing, abnormal sensitivity to light (photophobia), eye pain and redness, and painful skin lesions on the palms and soles. About half of individuals with type II tyrosinemia are also mentally challenged. Type II tyrosinemia occurs in fewer than 1 in 250,000 individuals.^{[citation needed]}

See also

• Palmoplantar keratoderma
• List of cutaneous conditions

References

1. ^ ^{a b} James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0721629210.
2. ^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0071380760.

This cutaneous condition article is a stub. You can help Wikipedia by expanding it.v · Categories: Amino acid metabolism disorders Autosomal recessive disorders Palmoplantar keratodermas Cutaneous condition stubs Wikimedia Foundation. 2010. Игры ⚽ Поможем решить контрольную работу Kearns–Sayre syndrome Oculus Sacerdotis Look at other dictionaries: tyrosinemia type I — an autosomal recessive disorder due to mutation in the FAH gene (locus: 15q23 q25), which encodes fumarylacetoacetase, an enzyme important in tyrosine catabolism. It is characterized by accumulation of succinylacetoacetate and succinylacetone,… …   Medical dictionary tyrosinemia type II — a rare autosomal recessive disorder due to mutation in the TAT gene (locus: 16q22.1 q22.3), which encodes tyrosine transaminase, an enzyme important in tyrosine catabolism. Clinical characteristics include crystallization of the accumulated… …   Medical dictionary tyrosinemia type III — an extremely rare autosomal recessive disorder caused by homozygous mutation in the HPD gene (locus: 12q24 qter), which encodes 4 hydroxyphenylpyruvate dioxygenase, an enzyme important in tyrosine catabolism. It is characterized by… …   Medical dictionary Tyrosinemia — Infobox Disease Name = PAGENAME Caption = Tyrosine DiseasesDB = 13478 DiseasesDB mult = DiseasesDB2|13486 DiseasesDB2|29836 ICD10 = ICD10|E|70|2|e|70 ICD9 = ICD9|270.2 ICDO = OMIM = 276700 OMIM mult = OMIM2|276600 OMIM2|276710 MedlinePlus =… …   Wikipedia Type I tyrosinemia — Infobox Disease Name = PAGENAME Caption = Tyrosine DiseasesDB = 13478 DiseasesDB mult = ICD10 = ICD10|E|70|2|e|70 ICD9 = ICD9|270.2 ICDO = OMIM = 276700 OMIM mult = MedlinePlus = eMedicineSubj = ped eMedicineTopic = 2339 MeshID = D020176 Type I… …   Wikipedia Tyrosinemia — A genetic metabolic disorder involving the amino acid tyrosine. The enzymatic basis of the disease is deficiency of an enzyme called fumarylacetoacetic hydrolase, the last enzyme in the tyrosine pathway. Tyrosinemia is inherited as an autosomal… …   Medical dictionary Type II tyrosinemia — Infobox Disease Name = PAGENAME Caption = Tyrosine DiseasesDB = 13486 DiseasesDB mult = ICD10 = ICD10|E|70|2|e|70 ICD9 = ICD9|270.2 ICDO = OMIM = 276600 OMIM mult = MedlinePlus = eMedicineSubj = ped eMedicineTopic = 2339 MeshID = D020176 Type II… …   Wikipedia Type III tyrosinemia — Infobox Disease Name = PAGENAME Caption = Tyrosine DiseasesDB = 29836 DiseasesDB mult = ICD10 = ICD10|E|70|2|e|70 ICD9 = ICD9|270.2 ICDO = OMIM = 276710 OMIM mult = MedlinePlus = eMedicineSubj = ped eMedicineTopic = 2339 MeshID = D020176 Type III …   Wikipedia Ocular albinism type 1 — Classification and external resources ICD 10 E70.3 OMIM 300500 DiseasesDB …   Wikipedia Glutaric acidemia type 2 — Classification and external resources Glutaric acid ICD 10 E …   Wikipedia 18+ © Academic, 2000-2024 Contact us: Technical Support, Advertising Dictionaries export, created on PHP, Joomla, Drupal, WordPress, MODx. Mark and share Search through all dictionaries Translate… Search Internet Share the article and excerpts Direct link … Do a right-click on the link above and select “Copy Link”