Diseases

Tyrosinemias

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)

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

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)

MeSH Record

Classification

Broader headings

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See Also

MeSH Record

Synonyms

79 entry terms
  • Hereditary Tyrosinemias
  • Hypertyrosinemia
  • Tyrosinemia
  • Tyrosinemias, Hereditary
  • Hereditary Tyrosinemia
  • Tyrosinemia, Hereditary
  • 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
  • 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 Type 1
  • Tyrosinemia, Type 2
  • Tyrosinemia, Type I
  • Tyrosinemia, Type II
  • Tyrosinemia, Type III
  • Tyrosinosis, Oculocutaneous Type
  • 2 Tyrosinemias, Type
  • 4 Hydroxyphenol Pyruvic Acid Oxidase Deficiency Disease
  • Deficiencies, 4-Hydroxyphenylpyruvate Dioxygenase
  • Deficiencies, Fumarylacetoacetase
  • Deficiencies, Tat
  • Deficiency Disease, 4 Hydroxyphenol Pyruvic Acid Oxidase
  • 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 Diseases
  • Hepatorenal Tyrosinemias
  • Hypertyrosinemias, Type I
  • Oculocutaneous Type Tyrosinoses
  • Oculocutaneous Type Tyrosinosis
  • Richner Hanhart Syndrome
  • Richner-Hanhart Syndromes
  • Syndrome, Richner-Hanhart
  • Syndromes, Richner-Hanhart
  • Tat Deficiencies
  • 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
  • Tyrosinemia Type 1s
  • Tyrosinemia, Hepatorenal
  • Tyrosinemias, Hepatorenal
  • Tyrosinemias, Type 2
  • Tyrosinemias, Type I
  • Tyrosinemias, Type II
  • Tyrosinemias, Type III
  • Tyrosinoses, Oculocutaneous Type

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Record

Indexing Annotation

note X refs: consider also TYROSINE TRANSAMINASE /defic or other enzymes /defic

MeSH Record

History Note

2000

MeSH Record

Previous Indexing

  • Amino Acid Metabolism, Inborn Errors (1967-1999)

MeSH Hierarchy

Tree Numbers

  1. C10w.228w.140w.163.100.875w
  2. C16w.320w.565w.100.880w
  3. C16w.320w.565w.189.875w
  4. C18.452w.132.100.875w
  5. C18.452w.648w.100.880w
  6. C18.452w.648w.189.875w

MeSH Record

NLM Classification

QU 265.5.A5

AMA Style

References

  1. National Library of Medicine. Tyrosinemias. Medical Subject Headings (MeSH). 2026. Unique ID D020176. http://id.nlm.nih.gov/mesh/2026/D020176
  2. Tyrosinemias. In: Wikipedia. https://en.wikipedia.org/wiki/Tyrosinemia
  3. Tyrosinemias. In: Wikidata. https://www.wikidata.org/wiki/Q1122668