MeSH Browser

MeSH Heading: Tyrosinemias
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
Unique ID: D020176
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/D020176
Annotation: note X refs: consider also TYROSINE TRANSAMINASE /‌defic or other enzymes /‌defic
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)
Entry Term(s): 4 Hydroxyphenylpyruvate Dioxygenase Deficiency Disease; 4-Hydroxyphenol Pyruvic Acid Oxidase Deficiency Disease; 4-Hydroxyphenylpyruvate Dioxygenase Deficiency; 4-Hydroxyphenylpyruvic Acid Oxidase Deficiency; Deficiency Disease, 4-Hydroxyphenol Pyruvic Acid Oxidase; Deficiency Disease, Fumarylacetoacetase; Deficiency Disease, Tyrosine Transaminase; Fumarylacetoacetase Deficiency; Fumarylacetoacetase Deficiency Disease; Hepatorenal Tyrosinemia; Hereditary Tyrosinemia, Type I; Hereditary Tyrosinemia, Type II; Hereditary Tyrosinemia, Type III; Hereditary Tyrosinemias; Hypertyrosinemia; Hypertyrosinemia, Type I; Keratosis Palmoplantaris with Corneal Dystrophy; Oregon Type Tyrosinemia; Richner-Hanhart Syndrome; Richner-Hanhart Syndrome, Tyrosinosis, Oculocutaneous Type; Tat Deficiency; Tyrosine Aminotransferase Deficiency; Tyrosine Transaminase Deficiency; Tyrosine Transaminase Deficiency Disease; Tyrosinemia; Tyrosinemia Type 1; Tyrosinemia, Type 2; Tyrosinemia, Type I; Tyrosinemia, Type II; Tyrosinemia, Type III; Tyrosinemias, Hereditary; Tyrosinosis, Oculocutaneous Type
NLM Classification #: QU 265.5.A5
Previous Indexing: Amino Acid Metabolism, Inborn Errors (1967-1999)
Public MeSH Note: 2000
History Note: 2000
Date Established: 2000/01/01
Date of Entry: 1999/11/04
Revision Date: 2016/06/28

Allowable Qualifiers: blood (BL)

cerebrospinal fluid (CF)

chemically induced (CI)

classification (CL)

complications (CO)

diagnosis (DI)

diagnostic imaging (DG)

diet therapy (DH)

drug therapy (DT)

economics (EC)

embryology (EM)

enzymology (EN)

epidemiology (EP)

ethnology (EH)

etiology (ET)

genetics (GE)

history (HI)

immunology (IM)

metabolism (ME)

microbiology (MI)

mortality (MO)

nursing (NU)

parasitology (PS)

pathology (PA)

physiopathology (PP)

prevention & control (PC)

psychology (PX)

radiotherapy (RT)

rehabilitation (RH)

surgery (SU)

therapy (TH)

urine (UR)

veterinary (VE)

virology (VI)

Nervous System Diseases [C10]
- Central Nervous System Diseases [C10.228]
  - Brain Diseases [C10.228.140]
    - Brain Diseases, Metabolic [C10.228.140.163]
      - Brain Diseases, Metabolic, Inborn [C10.228.140.163.100]
        
        Adrenoleukodystrophy [C10.228.140.163.100.084]
        
        Cerebral Amyloid Angiopathy, Familial [C10.228.140.163.100.168]
        
        Galactosemias [C10.228.140.163.100.320]
        
        Hartnup Disease [C10.228.140.163.100.355]
        
        Hepatolenticular Degeneration [C10.228.140.163.100.360]
        
        Hereditary Central Nervous System Demyelinating Diseases [C10.228.140.163.100.362]
        
        Homocystinuria [C10.228.140.163.100.365]
        
        Hyperglycinemia, Nonketotic [C10.228.140.163.100.375]
        
        Hyperlysinemias [C10.228.140.163.100.380]
        
        Leigh Disease [C10.228.140.163.100.412]
        
        Lesch-Nyhan Syndrome [C10.228.140.163.100.425]
        
        Lysosomal Storage Diseases, Nervous System [C10.228.140.163.100.435]
        
        Maple Syrup Urine Disease [C10.228.140.163.100.520]
        
        MELAS Syndrome [C10.228.140.163.100.535]
        
        Menkes Kinky Hair Syndrome [C10.228.140.163.100.540]
        
        MERRF Syndrome [C10.228.140.163.100.545]
        
        Mevalonate Kinase Deficiency [C10.228.140.163.100.593]
        
        Oculocerebrorenal Syndrome [C10.228.140.163.100.640]
        
        Phenylketonurias [C10.228.140.163.100.687]
        
        Pyruvate Carboxylase Deficiency Disease [C10.228.140.163.100.725]
        
        Pyruvate Dehydrogenase Complex Deficiency Disease [C10.228.140.163.100.750]
        
        Refsum Disease [C10.228.140.163.100.813]
        
        Refsum Disease, Infantile [C10.228.140.163.100.844]
        
        Tyrosinemias [C10.228.140.163.100.875]
        
        Urea Cycle Disorders, Inborn [C10.228.140.163.100.937]
        
        Zellweger Syndrome [C10.228.140.163.100.968]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
  - Metabolism, Inborn Errors [C16.320.565]
    - Amino Acid Metabolism, Inborn Errors [C16.320.565.100]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
  - Metabolism, Inborn Errors [C16.320.565]
    - Brain Diseases, Metabolic, Inborn [C16.320.565.189]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - Brain Diseases, Metabolic [C18.452.132]
    - Brain Diseases, Metabolic, Inborn [C18.452.132.100]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - Metabolism, Inborn Errors [C18.452.648]
    - Amino Acid Metabolism, Inborn Errors [C18.452.648.100]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - Metabolism, Inborn Errors [C18.452.648]
    - Brain Diseases, Metabolic, Inborn [C18.452.648.189]

Tyrosinemias Preferred

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)
Terms: Tyrosinemias Preferred Term
Term UI T358654
Date10/12/1999
LexicalTag NON
ThesaurusID NLM (2000); Tyrosinemia
Term UI T842630
Date04/18/2013
LexicalTag NON
ThesaurusID NLM (2014); Hereditary Tyrosinemias
Term UI T842631
Date04/18/2013
LexicalTag NON
ThesaurusID NLM (2014); Hypertyrosinemia
Term UI T842632
Date04/18/2013
LexicalTag NON
ThesaurusID NLM (2014); Tyrosinemias, Hereditary
Term UI T370825
Date10/12/1999
LexicalTag NON
ThesaurusID NLM (2000)

Tyrosinemia, Type I Narrower

Tyrosinemia, Type II Narrower

Tyrosinemia, Type III Narrower

Tyrosinemias MeSH Descriptor Data 2025