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| Descritor em português: | Tirosinemias | ||||||
| Descritor em inglês: | Tyrosinemias | ||||||
| Descritor em espanhol: |
Tirosinemias
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| Descritor em francês: | Tyrosinémies | ||||||
| Termo(s) alternativo(s): |
2 Tyrosinemias, Type 4 Hydroxyphenol Pyruvic Acid Oxidase Deficiency Disease 4 Hydroxyphenylpyruvate Dioxygenase Deficiency Disease 4-Hydroxyphenol Pyruvic Acid Oxidase Deficiency Disease 4-Hydroxyphenylpyruvate Dioxygenase Deficiency 4-Hydroxyphenylpyruvic Acid Oxidase Deficiency Deficiencies, 4-Hydroxyphenylpyruvate Dioxygenase Deficiencies, Fumarylacetoacetase Deficiencies, Tat Deficiency Disease, 4 Hydroxyphenol Pyruvic Acid Oxidase Deficiency Disease, 4-Hydroxyphenol Pyruvic Acid Oxidase Deficiency Disease, Fumarylacetoacetase Deficiency Disease, Tyrosine Transaminase Deficiency Diseases, Fumarylacetoacetase Deficiency, 4-Hydroxyphenylpyruvate Dioxygenase Deficiency, Fumarylacetoacetase Deficiency, Tat Dioxygenase Deficiencies, 4-Hydroxyphenylpyruvate Dioxygenase Deficiency, 4-Hydroxyphenylpyruvate Disease, Fumarylacetoacetase Deficiency Diseases, Fumarylacetoacetase Deficiency Fumarylacetoacetase Deficiencies Fumarylacetoacetase Deficiency Fumarylacetoacetase Deficiency Disease Fumarylacetoacetase Deficiency Diseases Hepatorenal Tyrosinemia Hepatorenal Tyrosinemias Hereditary Tyrosinemia Hereditary Tyrosinemia, Type I Hereditary Tyrosinemia, Type II Hereditary Tyrosinemia, Type III Hereditary Tyrosinemias Hypertyrosinemia Hypertyrosinemia, Type I Hypertyrosinemias, Type I Keratosis Palmoplantaris with Corneal Dystrophy Oculocutaneous Type Tyrosinoses Oculocutaneous Type Tyrosinosis Oregon Type Tyrosinemia Richner Hanhart Syndrome Richner-Hanhart Syndrome Richner-Hanhart Syndrome, Tyrosinosis, Oculocutaneous Type Richner-Hanhart Syndromes Syndrome, Richner-Hanhart Syndromes, Richner-Hanhart Tat Deficiencies Tat Deficiency Type 2 Tyrosinemia Type 2 Tyrosinemias Type I Hypertyrosinemia Type I Hypertyrosinemias Type I Tyrosinemia Type I Tyrosinemias Type II Tyrosinemia Type II Tyrosinemias Type III Tyrosinemia Type III Tyrosinemias Type Tyrosinoses, Oculocutaneous Type Tyrosinosis, Oculocutaneous Tyrosine Aminotransferase Deficiency Tyrosine Transaminase Deficiency Tyrosine Transaminase Deficiency Disease Tyrosinemia Tyrosinemia Type 1 Tyrosinemia Type 1s Tyrosinemia, Hepatorenal Tyrosinemia, Hereditary Tyrosinemia, Type 2 Tyrosinemia, Type I Tyrosinemia, Type II Tyrosinemia, Type III Tyrosinemias, Hepatorenal Tyrosinemias, Hereditary Tyrosinemias, Type 2 Tyrosinemias, Type I Tyrosinemias, Type II Tyrosinemias, Type III Tyrosinoses, Oculocutaneous Type Tyrosinosis, Oculocutaneous Type |
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| Código(s) hierárquico(s): |
C10.228.140.163.100.875 C16.320.565.100.880 C16.320.565.189.875 C18.452.132.100.875 C18.452.648.100.880 C18.452.648.189.875 |
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| Identificador Único RDF: | https://id.nlm.nih.gov/mesh/D020176 | ||||||
| Nota de escopo: | 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 INTELLECTUAL DISABILITY, 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 INTELLECTUAL DISABILITY and is caused by a deficiency of the enzyme 4-HYDROXYPHENYLPYRUVATE DIOXYGENASE. (Menkes, Textbook of Child Neurology, 5th ed, pp42-3) |
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| Nota de indexação: | note X refs: consider also TYROSINE TRANSAMINASE /defic or other enzymes /defic |
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| Qualificadores permitidos: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| Indexação Anterior: |
Amino Acid Metabolism, Inborn Errors (1967-1999) |
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| Nota MeSH pública: | 2000 |
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| Nota histórica: | 2000 |
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| Identificador DeCS: | 34235 | ||||||
| ID do descritor: | D020176 | ||||||
| Classificação da NLM: | WD 205.5.A5 | ||||||
| Documentos indexados na Biblioteca Virtual em Saúde (BVS): | Clique aqui para acessar os documentos da BVS | ||||||
| Data de estabelecimento: | 01/01/2000 | ||||||
| Data de entrada: | 04/11/1999 | ||||||
| Data de revisão: | 28/06/2016 |
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Tyrosinemias
- Conceito preferido
Tyrosinemia, Type III
- Mais específico
Tyrosinemia, Type I
- Mais específico
Tyrosinemia, Type II
- Mais específico
| Identificador do conceito |
M0328654 |
| Nota de escopo | 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 INTELLECTUAL DISABILITY, 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 INTELLECTUAL DISABILITY and is caused by a deficiency of the enzyme 4-HYDROXYPHENYLPYRUVATE DIOXYGENASE. (Menkes, Textbook of Child Neurology, 5th ed, pp42-3) |
| Termo preferido | Tyrosinemias |
| Termo(s) alternativo(s) |
Hereditary Tyrosinemia Hereditary Tyrosinemias Hypertyrosinemia Tyrosinemia Tyrosinemia, Hereditary Tyrosinemias, Hereditary |
| Identificador do conceito |
M0336268 |
| Termo preferido | Tyrosinemia, Type III |
| Termo(s) alternativo(s) |
4 Hydroxyphenol Pyruvic Acid Oxidase Deficiency Disease 4 Hydroxyphenylpyruvate Dioxygenase Deficiency Disease 4-Hydroxyphenol Pyruvic Acid Oxidase Deficiency Disease 4-Hydroxyphenylpyruvate Dioxygenase Deficiency 4-Hydroxyphenylpyruvic Acid Oxidase Deficiency Deficiencies, 4-Hydroxyphenylpyruvate Dioxygenase Deficiency Disease, 4 Hydroxyphenol Pyruvic Acid Oxidase Deficiency Disease, 4-Hydroxyphenol Pyruvic Acid Oxidase Deficiency, 4-Hydroxyphenylpyruvate Dioxygenase Dioxygenase Deficiencies, 4-Hydroxyphenylpyruvate Dioxygenase Deficiency, 4-Hydroxyphenylpyruvate Hereditary Tyrosinemia, Type III Type III Tyrosinemia Type III Tyrosinemias Tyrosinemias, Type III |
| Identificador do conceito |
M0336266 |
| Termo preferido | Tyrosinemia, Type I |
| Termo(s) alternativo(s) |
Deficiencies, Fumarylacetoacetase Deficiency Disease, Fumarylacetoacetase Deficiency Diseases, Fumarylacetoacetase Deficiency, Fumarylacetoacetase Disease, Fumarylacetoacetase Deficiency Diseases, Fumarylacetoacetase Deficiency Fumarylacetoacetase Deficiencies Fumarylacetoacetase Deficiency Fumarylacetoacetase Deficiency Disease Fumarylacetoacetase Deficiency Diseases Hepatorenal Tyrosinemia Hepatorenal Tyrosinemias Hereditary Tyrosinemia, Type I Hypertyrosinemia, Type I Hypertyrosinemias, Type I Type I Hypertyrosinemia Type I Hypertyrosinemias Type I Tyrosinemia Type I Tyrosinemias Tyrosinemia Type 1 Tyrosinemia Type 1s Tyrosinemia, Hepatorenal Tyrosinemias, Hepatorenal Tyrosinemias, Type I |
| Identificador do conceito |
M0336267 |
| Termo preferido | Tyrosinemia, Type II |
| Termo(s) alternativo(s) |
2 Tyrosinemias, Type Deficiencies, Tat Deficiency Disease, Tyrosine Transaminase Deficiency, Tat Hereditary Tyrosinemia, Type II Keratosis Palmoplantaris with Corneal Dystrophy Oculocutaneous Type Tyrosinoses Oculocutaneous Type Tyrosinosis Oregon Type Tyrosinemia Richner Hanhart Syndrome Richner-Hanhart Syndrome Richner-Hanhart Syndrome, Tyrosinosis, Oculocutaneous Type Richner-Hanhart Syndromes Syndrome, Richner-Hanhart Syndromes, Richner-Hanhart Tat Deficiencies Tat Deficiency Type 2 Tyrosinemia Type 2 Tyrosinemias Type II Tyrosinemia Type II Tyrosinemias Type Tyrosinoses, Oculocutaneous Type Tyrosinosis, Oculocutaneous Tyrosine Aminotransferase Deficiency Tyrosine Transaminase Deficiency Tyrosine Transaminase Deficiency Disease Tyrosinemia, Type 2 Tyrosinemias, Type 2 Tyrosinemias, Type II Tyrosinoses, Oculocutaneous Type Tyrosinosis, Oculocutaneous Type |
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