Tyrosinemia | ICD-10 | E70.2 | | ICD-9 | 270.2 | Tyrosinemia (or "Tyrosinaemia") is an error of metabolism, usually inborn, in which the body can not effectively break down the amino acid tyrosine, found in most animal and plant proteins. 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. The following codes are used with International Statistical Classification of Diseases and Related Health Problems. ...
The following is a list of codes for International Statistical Classification of Diseases and Related Health Problems. ...
Santorio Santorio (1561-1636) in his steelyard balance, from Ars de statica medecina, first published 1614 Metabolism (from μεταβολισμος (metabolismos)) is the biochemical modification of chemical compounds in living organisms anggjgjhnd cell (b). ...
An amino acid residue is what is left of an amino acid once a molecule of water has been lost (an H+ from the nitrogenous side and an OH- from the carboxylic side) in the formation of a peptide bond. ...
Tyrosine (from the Greek tyros, meaning cheese, as it was first discovered in cheese), 4-hydroxyphenylalanine, or 2-amino-3(4-hydroxyphenyl)-propanoic acid, is one of the 20 amino acids that are used by cells to synthesize proteins. ...
In genetics, the term recessive gene refers to an allele that causes a phenotype (visible or detectable characteristic) that is only seen in a homozygous genotype (an organism that has two copies of the same allele). ...
Types
Type I tyrosinemia Type I tyrosinemia (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. 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. 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. ...
Ribbon diagram of the enzyme TIM. TIM is catalytically perfect, meaning its conversion rate is limited, or nearly limited to its substrate diffusion rate. ...
The Enzyme Commission number (EC number) is a numerical classification scheme for enzymes, based on the chemical reactions they catalyze. ...
Jaundice, also known as icterus (attributive adjective: icteric), is a yellowing of the skin, sclera (the white of the eyes) and mucous membranes caused by increased levels of bilirubin in the human body (or the body of another red blooded animal). ...
Nosebleed as a result of fracture through a rugby impact. ...
The liver is the largest internal organ of the human body. ...
Human kidneys viewed from behind with spine removed The kidneys are bean-shaped excretory organs in vertebrates. ...
The 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. ...
Hepatocellular carcinoma (HCC, also called hepatoma) is a primary malignancy (cancer) of the liver. ...
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 St. Jean region of Quebec, type 1 tyrosinemia affects 1 person in 1,846. Motto: Je me souviens (French: I remember) Official languages French Flower White garden lily Capital Quebec City Largest city Montreal Lieutenant-Governor Lise Thibault Premier Jean Charest (PLQ) Parliamentary representation - House seat - Senate seats 75 24 Area Total - Land - Water (% of total) Ranked 2nd 1,542,056 km² 1,183...
Type II tyrosinemia Type II tyrosinemia (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. 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. ...
The Enzyme Commission number (EC number) is a numerical classification scheme for enzymes, based on the chemical reactions they catalyze. ...
This article or section does not cite its references or sources. ...
A section of Human Skin In zootomy and dermatology, skin is an organ of the integumentary system made up of a layer of tissues that guard underlying muscles and organs. ...
For the pathologic fear of light see the article on -phobia Photophobia (also light sensitivity) is a symptom of excessive sensitivity to light and the aversion to sunlight or well-lit places. ...
Type III tyrosinemia Type III tyrosinemia (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. 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. ...
4-Hydroxyphenylpyruvate dioxygenase HPD is a Cu-containing enzyme, that catalyzes the third reaction in the catabolism of phenylalanine and tyrosine - the conversion of 4-hydroxyphenylpyruvate to homogentisate. ...
The Enzyme Commission number (EC number) is a numerical classification scheme for enzymes, based on the chemical reactions they catalyze. ...
Mental retardation (also called mental handicap and, as defined by the UK Mental Health Act 1983, mental impairment and severe mental impairment) is a term for a pattern of persistently slow learning of basic motor and language skills (milestones) during childhood, and a significantly below-normal global intellectual capacity as...
This article is about the medical term, epileptic seizure, as distinct from psychogenic non-epileptic seizure. ...
Treatment Treatment varies depending on the specific type. A low protein diet may be required in the management of tyrosinemia. A representation of the 3D structure of myoglobin, showing coloured alpha helices. ...
See also Alkaptonuria also known as alcaptonuria or ochronosis is a rare inherited genetic disorder of tyrosine metabolism. ...
Ochronosis is a dermatological disorder that results in the adverse pigmentation of cartilage from a long term buildup of phenylalanine or tyrosine. ...
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