Tyrosinemias (Tyrosinemia)

A group of disorders which have in common elevations of tyrosine in the blood and urine secondary to an enzyme deficiency. Type I tyrosinemia features episodic weakness, self-mutilation, hepatic necrosis, renal tubular injury, and seizures and is caused by a deficiency of the enzyme fumarylacetoacetase. Type II tyrosinemia features mental retardation, painful corneal ulcers, and keratoses of the palms and plantar surfaces and is caused by a deficiency of the enzyme TYROSINE TRANSAMINASE. Type III tyrosinemia features mental retardation and is caused by a deficiency of the enzyme 4-HYDROXYPHENYLPYRUVATE DIOXYGENASE. (Menkes, Textbook of Child Neurology, 5th ed, pp42-3)
Also Known As:
Tyrosinemia; Tyrosinemia, Hereditary; 4-Hydroxyphenol Pyruvic Acid Oxidase Deficiency Disease; Deficiency Disease, 4-Hydroxyphenol Pyruvic Acid Oxidase; Deficiency Disease, Fumarylacetoacetase; Deficiency Disease, Tyrosine Transaminase; Hereditary Tyrosinemia, Type I; Hereditary Tyrosinemia, Type II; Hereditary Tyrosinemia, Type III; Hypertyrosinemia, Type I; Tyrosinemia, Type I; Tyrosinemia, Type II; Tyrosinemia, Type III; Tyrosinemias, Hereditary; 4 Hydroxyphenol Pyruvic Acid Oxidase Deficiency Disease; Deficiency Disease, 4 Hydroxyphenol Pyruvic Acid Oxidase; Deficiency Diseases, Fumarylacetoacetase; Disease, Fumarylacetoacetase Deficiency; Diseases, Fumarylacetoacetase Deficiency; Fumarylacetoacetase Deficiency Diseases; Hereditary Tyrosinemia; Hereditary Tyrosinemias; Hypertyrosinemias, Type I; Type I Hypertyrosinemia; Type I Hypertyrosinemias; Type I Tyrosinemia; Type I Tyrosinemias; Type II Tyrosinemia; Type II Tyrosinemias; Type III Tyrosinemia; Type III Tyrosinemias; Tyrosinemias, Type I; Tyrosinemias, Type II; Tyrosinemias, Type III; 4 Hydroxyphenylpyruvate Dioxygenase Deficiency Disease; Fumarylacetoacetase Deficiency Disease; Tyrosine Transaminase Deficiency Disease
Networked: 446 relevant articles (15 outcomes, 30 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Hepatocellular Carcinoma (Hepatoma)
2. Alkaptonuria
3. Homocystinuria
4. Galactosemias (Galactosemia)
5. Inborn Genetic Diseases (Disease, Hereditary)


1. Tanguay, Robert M: 10 articles (12/2015 - 10/2003)
2. Grompe, Markus: 7 articles (07/2014 - 12/2002)
3. Ferreira, Gustavo C: 6 articles (04/2014 - 12/2012)
4. Streck, Emilio L: 6 articles (04/2014 - 12/2012)
5. Schuck, Patrícia F: 6 articles (04/2014 - 12/2012)
6. Ferreira, Gabriela K: 6 articles (04/2014 - 12/2012)
7. Carvalho-Silva, Milena: 6 articles (04/2014 - 12/2012)
8. Dutra-Filho, Carlos Severo: 5 articles (06/2015 - 10/2008)
9. Bergeron, Anne: 5 articles (01/2015 - 10/2003)
10. Orejuela, Diana: 4 articles (12/2015 - 03/2006)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Tyrosinemias:
1. Tyrosine (L-Tyrosine)FDA Link
2. succinylacetoneIBA
3. nitisinone (Orfadin)FDA Link
4. Homogentisic AcidIBA
5. DNA (Deoxyribonucleic Acid)IBA
6. alpha-Fetoproteins (AFP)IBA
7. Amino AcidsFDA Link
8. HerbicidesIBA
9. Coenzyme A (CoA)IBA
05/01/2008 - "Were obtained seven positive results, one for each disorder: homocystinuria, hyperphenylalaninemia, citrulinemia, transient tyrosinemia, 3-methylcrotonyl CoA carboxylase deficiency, 3-hydroxy-3-methylglutaryl CoA deficiency, and classic galactosemia. "
04/01/2003 - "The disease profile was consisted of methylmalonic acidemias (6), alpha-keto-glutaric aciduria (5), tyrosinemia type I (4), dicarboxylic aciduria (4), multiple carboxylase deficiency (3), phenylketonuria (3), lactic acidemia (3), propionic acidemia (2), ornithine transcarbamoylase deficiency (1), ethylmalonic-adipic aciduria (1), glutaric aciduria type II (1) and 3-methylcrotyl CoA carboxylase deficiency (1). "
08/05/2008 - "319 of the 4981 children (6.4%) were diagnosed as with 24 kinds of diseases: 155 of the 319 cases (48.6%) with 8 kinds of amino acid diseases (97 with hyperphenylalaninemia, 14 with maple syrup urine disease 13 with ornithine transcarbamylase deficiency, 13 with citrullinemia type II, 10 with tyrosinemia type I, 5 with citrullinemia type I, 2 with homocystinuria, and 1 with arginasemia); 150 of the 319 cases (47.0%) were diagnosed as with 10 kinds of organic acidemias (81 with methylmalonic acidemia, 17 with propionic acidemia, 17 with multiple CoA carboxylase deficiency, 11 with glutaric acidemia type II, 8 with isovaleric acidemia, 6 with beta-keto thiolase deficiency, 5 with 3-methylcrotonyl-CoA carboxylase deficiency, and 3 with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency); 14 cases (4.4%) were diagnosed as with 6 kinds of fatty acid disorders (5 with medium chain acyl-CoA dehydrogenase deficiency, 3 with very long chain acyl CoA dehydrogenase deficiency, 2 with short chain acyl-CoA dehydrogenase deficiency, 2 with multiple acyl-CoA dehydrogenase deficiency, 1 with carnitine palmitoyl transferase type II, and 1 with carnitine palmitoyl transferase type I). "
10. First StepIBA

Therapies and Procedures

1. Liver Transplantation
2. Transplants (Transplant)
3. Transplantation (Transplant Recipients)
4. Protein-Restricted Diet (Diet, Protein Restricted)
5. Aftercare (After-Treatment)