| Descriptor English: | Tyrosinemias | ||||||
| Descriptor Spanish: |
Tirosinemias
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| Descriptor Portuguese: | Tirosinemias | ||||||
| Descriptor French: | Tyrosinémies | ||||||
| Entry term(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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| Tree number(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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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D020176 | ||||||
| Scope note: | 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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| Annotation: | note X refs: consider also TYROSINE TRANSAMINASE /defic or other enzymes /defic |
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| Allowable Qualifiers: |
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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| Previous Indexing: |
Amino Acid Metabolism, Inborn Errors (1967-1999) |
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| Public MeSH Note: | 2000 |
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| History Note: | 2000 |
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| DeCS ID: | 34235 | ||||||
| Unique ID: | D020176 | ||||||
| NLM Classification: | WD 205.5.A5 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 2000/01/01 | ||||||
| Date of Entry: | 1999/11/04 | ||||||
| Revision Date: | 2016/06/28 |
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Tyrosinemias
- Preferred
Tyrosinemia, Type III
- Narrower
Tyrosinemia, Type I
- Narrower
Tyrosinemia, Type II
- Narrower
| Concept UI |
M0328654 |
| Scope note | 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) |
| Preferred term | Tyrosinemias |
| Entry term(s) |
Hereditary Tyrosinemia Hereditary Tyrosinemias Hypertyrosinemia Tyrosinemia Tyrosinemia, Hereditary Tyrosinemias, Hereditary |
| Concept UI |
M0336268 |
| Preferred term | Tyrosinemia, Type III |
| Entry term(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 |
| Concept UI |
M0336266 |
| Preferred term | Tyrosinemia, Type I |
| Entry term(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 |
| Concept UI |
M0336267 |
| Preferred term | Tyrosinemia, Type II |
| Entry term(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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