Tyrosinemia, the Glossary

Table of Contents

1. 22 relations: Alkaptonuria, Fumarylacetoacetic acid, Hepatocyte, Heredity, Inborn errors of metabolism, Kidney, Liver, Liver transplantation, Low-protein diet, Metabolism, Nitisinone, Ochronosis, Pathognomonic, Phenylalanine, Proximal tubule, Succinylacetone, Tyrosine, Tyrosine aminotransferase, Tyrosinemia type I, Tyrosinemia type II, Tyrosinemia type III, 4-Hydroxyphenylpyruvate dioxygenase.

Alkaptonuria

Alkaptonuria is a rare inherited genetic disease which is caused by a mutation in the HGD gene for the enzyme homogentisate 1,2-dioxygenase; if a person inherits an abnormal copy from both parents (it is a recessive condition), the body accumulates an intermediate substance called homogentisic acid in the blood and tissues. Tyrosinemia and Alkaptonuria are amino acid metabolism disorders and autosomal recessive disorders.

See Tyrosinemia and Alkaptonuria

Fumarylacetoacetic acid

Fumarylacetoacetic acid (fumarylacetoacetate) is an intermediate in the metabolism of tyrosine.

See Tyrosinemia and Fumarylacetoacetic acid

Hepatocyte

A hepatocyte is a cell of the main parenchymal tissue of the liver.

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Heredity

Heredity, also called inheritance or biological inheritance, is the passing on of traits from parents to their offspring; either through asexual reproduction or sexual reproduction, the offspring cells or organisms acquire the genetic information of their parents.

See Tyrosinemia and Heredity

Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of enzyme activities. Tyrosinemia and Inborn errors of metabolism are autosomal recessive disorders.

See Tyrosinemia and Inborn errors of metabolism

Kidney

In humans, the kidneys are two reddish-brown bean-shaped blood-filtering organs that are a multilobar, multipapillary form of mammalian kidneys, usually without signs of external lobulation.

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Liver

The liver is a major metabolic organ exclusively found in vertebrate animals, which performs many essential biological functions such as detoxification of the organism, and the synthesis of proteins and various other biochemicals necessary for digestion and growth.

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Liver transplantation

Liver transplantation or hepatic transplantation is the replacement of a diseased liver with the healthy liver from another person (allograft).

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Low-protein diet

A low-protein diet is a diet in which people decrease their intake of protein.

See Tyrosinemia and Low-protein diet

Metabolism (from μεταβολή metabolē, "change") is the set of life-sustaining chemical reactions in organisms.

See Tyrosinemia and Metabolism

Nitisinone

Nitisinone, sold under the brand name Orfadin among others, is a medication used to slow the effects of hereditary tyrosinemia type 1 (HT-1).

See Tyrosinemia and Nitisinone

Ochronosis

Ochronosis is a syndrome caused by the accumulation of homogentisic acid in connective tissues. Tyrosinemia and Ochronosis are amino acid metabolism disorders and autosomal recessive disorders.

See Tyrosinemia and Ochronosis

Pathognomonic

Pathognomonic (rare synonym pathognomic) is a term, often used in medicine, that means "characteristic for a particular disease".

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Phenylalanine

Phenylalanine (symbol Phe or F) is an essential α-amino acid with the formula.

See Tyrosinemia and Phenylalanine

Proximal tubule

The proximal tubule is the segment of the nephron in kidneys which begins from the renal pole of the Bowman's capsule to the beginning of loop of Henle.

See Tyrosinemia and Proximal tubule

Succinylacetone

Succinylacetone is a chemical compound that is formed by the oxidation of glycine and is a precursor of methylglyoxal.

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Tyrosine

-Tyrosine or tyrosine (symbol Tyr or Y) or 4-hydroxyphenylalanine is one of the 20 standard amino acids that are used by cells to synthesize proteins.

See Tyrosinemia and Tyrosine

Tyrosine aminotransferase

Tyrosine aminotransferase (or tyrosine transaminase) is an enzyme present in the liver and catalyzes the conversion of tyrosine to 4-hydroxyphenylpyruvate.

See Tyrosinemia and Tyrosine aminotransferase

Tyrosinemia type I

Tyrosinemia type I is a genetic disorder that disrupts the metabolism of the amino acid tyrosine, resulting in damage primarily to the liver along with the kidneys and peripheral nerves. Tyrosinemia and Tyrosinemia type I are amino acid metabolism disorders and autosomal recessive disorders.

See Tyrosinemia and Tyrosinemia type I

Tyrosinemia type II

Tyrosinemia type II 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. Tyrosinemia and Tyrosinemia type II are amino acid metabolism disorders and autosomal recessive disorders.

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Tyrosinemia type III

Tyrosinemia type III is a rare disorder caused by a deficiency of the enzyme 4-hydroxyphenylpyruvate dioxygenase, encoded by the gene HPD. Tyrosinemia and Tyrosinemia type III are amino acid metabolism disorders and autosomal recessive disorders.

See Tyrosinemia and Tyrosinemia type III

4-Hydroxyphenylpyruvate dioxygenase

4-Hydroxyphenylpyruvate dioxygenase (HPPD), also known as α-ketoisocaproate dioxygenase (KIC dioxygenase), is an Fe(II)-containing non-heme oxygenase that catalyzes the second reaction in the catabolism of tyrosine - the conversion of 4-hydroxyphenylpyruvate into homogentisate.

See Tyrosinemia and 4-Hydroxyphenylpyruvate dioxygenase

References

[1] https://en.wikipedia.org/wiki/Tyrosinemia

Also known as Hereditary Tyrosinemias, Hypertyrosinemia, Tyrosinaemia, Tyrosine-oxidase temporary deficiency, Tyrosinemia I, Tyrosinemias.