Tyrosinemias [tyrosinemie]
- Terms
-
4-hydroxyfenylpyruvátdioxygenasa - nedostatek
fumarylacetoacetasa - nedostatek
hereditární tyrosinemie
hypertyrosinemie
Richnerův-Hanhartův syndrom
tyrosinémie
tyrosinémie - typ I
tyrosinémie - typ II
tyrosinémie - typ III
tyrosinemie hepatorenální
tyrosinemie hereditární
tyrosinemie I. typu
tyrosinemie II. typu
tyrosinemie III. typu
tyrosinemie okulokutánní
tyrosintransaminasa - nedostatek
-
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
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)
- Annotation
- note X refs: consider also TYROSINE TRANSAMINASE /defic or other enzymes /defic
- DUI
- D020176 MeSH Browser
- CUI
- M0328654
- Previous indexing
- Amino Acid Metabolism, Inborn Errors (1967-1999)
- History note
- 2000
- Public note
- 2000
Allowable subheadings
- BL
- blood 1
- CF
- cerebrospinal fluid
- CI
- chemically induced
- CL
- classification 1
- CO
- complications 2
- DI
- diagnosis 11
- DG
- diagnostic imaging
- DH
- diet therapy 2
- DT
- drug therapy 2
- EC
- economics
- EM
- embryology
- EN
- enzymology 1
- EP
- epidemiology 1
- EH
- ethnology
- ET
- etiology 4
- GE
- genetics 4
- HI
- history
- IM
- immunology
- ME
- metabolism 1
- MI
- microbiology
- MO
- mortality
- NU
- nursing
- PS
- parasitology
- PA
- pathology 1
- PP
- physiopathology 2
- PC
- prevention & control
- PX
- psychology
- RT
- radiotherapy
- RH
- rehabilitation
- SU
- surgery
- TH
- therapy 8
- UR
- urine
- VE
- veterinary
- VI
- virology
Hawkinsinuria Disease MeSH Browser