Information about Tyrosinemia
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| |
|---|---|
| Tyrosine | |
| ICD-10 | E70.2 |
| ICD-9 | 270.2 |
| OMIM | 276700 276600 276710 |
| DiseasesDB | 13478 13486 29836 |
| eMedicine | ped/2339 |
| MeSH | D020176 |
Tyrosinemia is inherited in an autosomal recessive pattern. There are three types of tyrosinemia, each with distinctive symptoms and caused by the deficiency of a different enzyme.
Types
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Tyrosinemia is inherited in an autosomal recessive pattern.
Type I tyrosinemia
Type I tyrosinemia (Mendelian Inheritance in Man (OMIM) 276700) is the most severe form of this disorder and is caused by a shortage of the enzyme fumarylacetoacetate hydrolase (EC 3.7.1.2), encoded by the gene FAH found on chromosome number 15. Fumarylacetoacetate hydrolase is the last in a series of five enzymes needed to break down tyrosine. Symptoms of type I tyrosinemia usually appear in the first few months of life and include failure to gain weight and grow at the expected rate (failure to thrive), diarrhea, vomiting, yellowing of the skin and whites of the eyes (jaundice), cabbagelike odor, and increased tendency to bleed (particularly nosebleeds). Type I tyrosinemia can lead to liver and kidney failure, problems affecting the nervous system, and an increased risk of liver cancer.Worldwide, type I tyrosinemia affects about 1 person in 100,000. This type of tyrosinemia is much more common in Quebec, Canada. The overall incidence in Quebec is about 1 in 16,000 individuals. In the Saguenay-Lac-Saint-Jean region of Quebec, type 1 tyrosinemia affects 1 person in 1,846.
Type II tyrosinemia
Type II tyrosinemia (Mendelian Inheritance in Man (OMIM) 276600) 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 retarded. Type II tyrosinemia occurs in fewer than 1 in 250,000 individuals.Type III tyrosinemia
Type III tyrosinemia (Mendelian Inheritance in Man (OMIM) 276710) is a rare disorder caused by a deficiency of the enzyme 4-hydroxyphenylpyruvate dioxygenase (EC 1.13.11.27), encoded by the gene HPD. This enzyme is abundant in the liver, and smaller amounts are found in the kidneys. It is one of a series of enzymes needed to break down tyrosine. Specifically, 4-hydroxyphenylpyruvate dioxygenase converts a tyrosine byproduct called 4-hydroxyphenylpyruvate to homogentisic acid. Characteristic features of type III tyrosinemia include mild mental retardation, seizures, and periodic loss of balance and coordination (intermittent ataxia). Type III tyrosinemia is very rare; only a few cases have been reported.Treatment
Treatment varies depending on the specific type. A low protein diet may be required in the management of tyrosinemia. Recent experience with NTBC has shown to be very effective. The most effective treatment in patients with tyrosinemia type I seems to be full or partial liver transplant.See also
- Alkaptonuria
- Ochronosis
- For a thorough scientific overview of hypertyrosinemia, one can consult chapter 79 of OMMBID[1]. For more online resources and references, see inborn errors of metabolism.
External links
- University of Washington
- Liver Families - pediatric liver support group
References
1. ^ Charles Scriver, Beaudet, A.L., Valle, D., Sly, W.S., Vogelstein, B., Childs, B., Kinzler, K.W. (Accessed 2007). The Online Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill. - Summaries of 255 chapters, full text through many universities. There is also the OMMBID blog.
Tyrosine (abbreviated as Tyr or Y)[1] or 4-hydroxyphenylalanine, is one of the 20 amino acids that are used by cells to synthesize proteins. It is a non-essential amino acid and it is found in large quantities in casein.
..... Click the link for more information.For other uses of "ICD", see ICD (disambiguation).
The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD
..... Click the link for more information.List of ICD-10 codes. The version for 2007 is available online at [1]
Chapter Blocks Title
I Certain infectious and parasitic diseases
II Neoplasms
III Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
..... Click the link for more information.For other uses of "ICD", see ICD (disambiguation).
The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD
..... Click the link for more information.The following is a list of codes for International Statistical Classification of Diseases and Related Health Problems. These codes are in the public domain.See also
..... Click the link for more information.The Diseases Database is a free website that provides information about the relationships between medical conditions, symptoms, and medications.
It directly integrates the Unified Medical Language System.External links
- Diseases Database
..... Click the link for more information.eMedicine is an online clinical medical knowledge base that was founded in 1996 by Scott Plantz and Richard Lavely, two medical doctors. It was sold to WebMD in January 2006.
..... Click the link for more information.Medical Subject Headings (MeSH) is a huge controlled vocabulary (or metadata system) for the purpose of indexing journal articles and books in the life sciences. Created and updated by the United States National Library of Medicine (NLM), it is used by the MEDLINE/PubMed
..... Click the link for more information.Metabolism is the complete set of chemical reactions that occur in living cells. These processes are the basis of life, allowing cells to grow and reproduce, maintain their structures, and respond to their environments. Metabolism is usually divided into two categories.
..... Click the link for more information.amino acid is a molecule that contains both amine and carboxyl functional groups. In biochemistry, this term refers to alpha-amino acids with the general formula H2NCHRCOOH, where R is an organic substituent.
..... Click the link for more information.Tyrosine (abbreviated as Tyr or Y)[1] or 4-hydroxyphenylalanine, is one of the 20 amino acids that are used by cells to synthesize proteins. It is a non-essential amino acid and it is found in large quantities in casein.
..... Click the link for more information.The Mendelian Inheritance in Man project is a database that catalogues all the known diseases with a genetic component, and - when possible - links them to the relevant genes in the human genome and provides references for further research and tools for genomic analysis of a
..... Click the link for more information.Enzymes are proteins that catalyze (i.e. accelerate) chemical reactions.[1] In enzymatic reactions, the molecules at the beginning of the process are called substrates, and the enzyme converts them into different molecules, the products.
..... Click the link for more information.Fumarylacetoacetate hydrolase is an enzyme which catalyzes the hydrolysis of 4-fumarylacetoacetate into fumarate and acetoacetate.Pathology
Mutations in the FAH gene cause type I tyrosinemia.
..... Click the link for more information.Enzyme Commission number (EC number) is a numerical classification scheme for enzymes, based on the chemical reactions they catalyze. As a system of enzyme nomenclature, every EC number is associated with a recommended name for the respective enzyme.
..... Click the link for more information.Fumarylacetoacetate hydrolase is an enzyme which catalyzes the hydrolysis of 4-fumarylacetoacetate into fumarate and acetoacetate.Pathology
Mutations in the FAH gene cause type I tyrosinemia.
..... Click the link for more information.Jaundice, NOS
Classification & external resources
Yellowing of the skin and sclera caused by Hepatitis A.
ICD-10 R 17.
ICD-9 782.4
DiseasesDB 7038
MedlinePlus 003243
MeSH D007565
Jaundice, also known as icterus
..... Click the link for more information.Nosebleed
Classification & external resources
Nosebleed as a result of fracture through a rugby impact.
ICD-10 R 04.0
ICD-9 784.7
DiseasesDB 18327
eMedicine emerg/806 ent/701 , ped/1618
MeSH C08.460.
..... Click the link for more information.liver is an organ present in vertebrates and some other animals. It plays a major role in metabolism and has a number of functions in the body, including glycogen storage, decomposition of red blood cells, plasma protein synthesis, and detoxification.
..... Click the link for more information.The kidneys are organs that filter wastes (such as urea) from the blood and excrete them, along with water, as urine. The medical field that studies the kidneys and diseases of the kidney is called nephrology[1].
..... Click the link for more information.nervous system of an animal coordinates the activity of the muscles, monitors the organs, constructs and also stops input from the senses, and initiates actions. Prominent parts of a nervous system include neurons and nerves, which are used in coordination.
..... Click the link for more information.Hepatocellular carcinoma
Classification & external resources
ICD-10 C 22.0
ICD-9 155
ICD-O: 8170/3
MedlinePlus 000280
eMedicine med/787
Hepatocellular carcinoma (HCC, also called hepatoma
..... Click the link for more information.Québec
Quebec [1]
Flag Coat of arms
Motto: Je me souviens (French: I remember)
Capital Quebec City
Largest city Montreal
Official languages French
Government
..... Click the link for more information.The Saguenay-Lac-Saint-Jean region in Quebec, Canada is distinguished by its physical beauty, especially the Saguenay Fjord, the estuary of the Saguenay River, stretching through much of the region.
..... Click the link for more information.The Mendelian Inheritance in Man project is a database that catalogues all the known diseases with a genetic component, and - when possible - links them to the relevant genes in the human genome and provides references for further research and tools for genomic analysis of a
..... Click the link for more information.Tyrosine aminotransferase (or tyrosine transaminase) is an enzyme which catalyzes the conversion of tyrosine to 4-hydroxyphenylpyruvate.Pathology
A deficiency can be associated with type II tyrosinemia.
..... Click the link for more information.Enzyme Commission number (EC number) is a numerical classification scheme for enzymes, based on the chemical reactions they catalyze. As a system of enzyme nomenclature, every EC number is associated with a recommended name for the respective enzyme.
..... Click the link for more information.Eyes are organs of vision that detect light. Different kinds of light-sensitive organs are found in a variety of organisms. The simplest eyes do nothing but detect whether the surroundings are light or dark, while more complex eyes can distinguish shapes and colors.
..... Click the link for more information.Skin layers: epidermis, dermis, and subcutis, showing a hair follicle, sweat gland & sebaceous gland.]] In zootomy and dermatology, skin is the largest organ of the integumentary system made up of multiple layers of epithelial tissues that guard underlying muscles and organs.
..... Click the link for more information.Photophobia
Classification & external resources
ICD-10 H 53.1
ICD-9 368.13
DiseasesDB 24599
MedlinePlus 003041
MeSH D020795 Photophobia (also light sensitivity
..... Click the link for more information.
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