チロシン血症I型
- 関
- hereditary tyrosinemia、tyrosinemia
WordNet
- write by means of a keyboard with types; "type the acceptance letter, please" (同)typewrite
- a small metal block bearing a raised character on one end; produces a printed character when inked and pressed on paper; "he dropped a case of type, so they made him pick them up"
- (biology) the taxonomic group whose characteristics are used to define the next higher taxon
- a subdivision of a particular kind of thing; "what type of sculpture do you prefer?"
- all of the tokens of the same symbol; "the word `element contains five different types of character"
- printed characters; "small type is hard to read"
- identify as belonging to a certain type; "Such people can practically be typed" (同)typecast
- the 9th letter of the Roman alphabet (同)i
- autosomal recessive defect in tyrosine metabolism resulting in liver and kidney disturbances and mental retardation
- writing done with a typewriter (同)typewriting
PrepTutorEJDIC
- 〈C〉(…の)『型』,タイプ,類型,種類(kind)《+of+名》 / 〈C〉(その種類の特質を最もよく表している)『典型』,手本,模範《+of+名》 / 〈U〉《集合的に》活字;〈C〉(1個の)活字 / 〈U〉(印刷された)字体,活字 / 〈C〉(貨幣・メダルなどの)模様,図柄 / 〈C〉血液型(blood group) / …‘を'タイプに打つ / (…として)…‘を'分類する《+名+as+名(doing)》 / …‘の'型を決める / タイプライターを打つ
- 『私は』私が
- iodineの化学記号
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2017/01/24 03:52:28」(JST)
[Wiki en表示]
| Type I tyrosinemia |
|
| Tyrosine |
| Classification and external resources |
| Specialty |
endocrinology |
| ICD-10 |
E70.2 |
| ICD-9-CM |
270.2 |
| OMIM |
276700 |
| DiseasesDB |
13478 |
| eMedicine |
ped/2339 |
| MeSH |
D020176 |
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[edit on Wikidata]
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Type 1 tyrosinemia, also known as hepatorenal tyrosinemia or tyrosinosis, is the most severe form of tyrosinemia, a buildup of too much of the amino acid tyrosine in the blood and tissues due to an inability to metabolize it. It is caused by a deficiency of the enzyme fumarylacetoacetate hydrolase.
Contents
- 1 Genetics
- 2 Pathophysiology
- 3 Signs and symptoms
- 4 Treatment
- 5 References
Genetics
Type 1 tyrosinemia is inherited in an autosomal recessive pattern.[1] Worldwide, type I tyrosinemia affects about 1 person in 100,000. This type of tyrosinemia is much more common in Quebec, Canada. The overall incidence in Quebec is about 1 in 16,000 individuals. In the Saguenay-Lac-Saint-Jean region of Quebec, type 1 tyrosinemia affects 1 person in 1,846.[2] The carrier rate has been estimated to be between 1 in 20 and 1 in 31.[3]
Pathophysiology
Fumarylacetoacetate hydrolase catalyzes the final step in the degradation of tyrosine - fumarylacetoacetate to fumarate, acetoacetate and succinate. Fumarylacetoacetate accumulates in hepatocytes and proximal renal tubal cells and causes oxidative damage and DNA damage leading to cell death and dysfunctional gene expression which alters metabolic processes like protein synthesis and gluconeogenesis. The increase in fumarylacetoacetate inhibits previous steps in tyrosine degradation leading to an accumulation of tyrosine in the body. Tyrosine is not directly toxic to the liver or kidneys but causes dermatologic and neurodevelopmental problems.
Pathophysiology of metabolic disorders of tyrosine, resulting in elevated levels of tyrosine in blood.
Signs and symptoms
Type 1 tyrosinemia typically presents in infancy as failure to thrive and hepatomegaly. The primary effects are progressive liver and kidney dysfunction. The liver disease causes cirrhosis, conjugated hyperbilirubinemia, elevated AFP, hypoglycemia and coagulation abnormalities. This can lead to jaundice, ascites and hemorrhage. There is also an increased risk of hepatocellular carcinoma. The kidney dysfunction presents as Fanconi syndrome: Renal tubular acidosis, hypophosphatemia and aminoaciduria. Cardiomyopathy, neurologic and dermatologic manifestations are also possible. The urine has an odor of cabbage or rancid butter.[4]
Treatment
The primary treatment for type 1 tyrosinemia is nitisinone (Orfadin) and restriction of tyrosine in the diet.[1] Nitisinone inhibits the conversion of 4-OH phenylpyruvate to homogentisic acid by 4-Hydroxyphenylpyruvate dioxygenase, the second step in tyrosine degradation. By inhibiting this enzyme, the accumulation of the fumarylacetoacetate is prevented.[5] Previously, liver transplantation was the primary treatment option and is still used in patients in whom nitisinone fails.
References
- ^ a b National Organization for Rare Disorders. Physician’s Guide to Tyrosinemia Type 1
- ^ Grompe M, St-Louis M, Demers SI, al-Dhalimy M, Leclerc B, Tanguay RM (1994). "A single mutation of the fumarylacetoacetate hydrolase gene in French Canadians with hereditary tyrosinemia type I". N. Engl. J. Med. 331 (6): 353–7. doi:10.1056/NEJM199408113310603. PMID 8028615.
- ^ Laberge, C.; L. Dallaire (October 28, 1967). "Genetic aspects of tyrosinemia in the Chicoutimi region". Can Med Assoc J. 97 (18): 1099–1101. PMC 1923580. PMID 6057677.
- ^ Enns GM, Packman S (2001). "Diagnosing Inborn Errors of Metabolism in the Newborn: Clinical Features" (PDF). NeoReviews. 2 (8): e183–e191. doi:10.1542/neo.2-8-e183. ISSN 1526-9906.
- ^ Lock EA et al. From toxicological problem to therapeutic use: the discovery of the mode of action of 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC), its toxicology and development as a drug. J Inherit Metab Dis. 1998 Aug;21(5):498-506. PMID 9728330
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Inborn error of amino acid metabolism (E70–E72, 270)
|
|
| K→acetyl-CoA |
|
Lysine/straight chain
|
- Glutaric acidemia type 1
- type 2
- Hyperlysinemia
- Pipecolic acidemia
- Saccharopinuria
|
|
|
Leucine
|
- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
- 3-Methylcrotonyl-CoA carboxylase deficiency
- 3-Methylglutaconic aciduria 1
- Isovaleric acidemia
- Maple syrup urine disease
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|
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Tryptophan
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| G |
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G→pyruvate→citrate
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Glycine
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- D-Glyceric acidemia
- Glutathione synthetase deficiency
- Sarcosinemia
- Glycine→Creatine: GAMT deficiency
- Glycine encephalopathy
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|
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G→glutamate→
α-ketoglutarate
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Histidine
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- Carnosinemia
- Histidinemia
- Urocanic aciduria
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Proline
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- Hyperprolinemia
- Prolidase deficiency
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Glutamate/glutamine
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G→propionyl-CoA→
succinyl-CoA
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Valine
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- Hypervalinemia
- Isobutyryl-CoA dehydrogenase deficiency
- Maple syrup urine disease
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Isoleucine
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- 2-Methylbutyryl-CoA dehydrogenase deficiency
- Beta-ketothiolase deficiency
- Maple syrup urine disease
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Methionine
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- Cystathioninuria
- Homocystinuria
- Hypermethioninemia
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General BC/OA
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- Methylmalonic acidemia
- Methylmalonyl-CoA mutase deficiency
- Propionic acidemia
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|
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G→fumarate
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Phenylalanine/tyrosine
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Phenylketonuria
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- 6-Pyruvoyltetrahydropterin synthase deficiency
- Tetrahydrobiopterin deficiency
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Tyrosinemia
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- Alkaptonuria/Ochronosis
- Type I tyrosinemia
- Type II tyrosinemia
- Type III tyrosinemia/Hawkinsinuria
|
|
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Tyrosine→Melanin
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- Albinism: Ocular albinism (1)
- Oculocutaneous albinism (Hermansky–Pudlak syndrome)
- Waardenburg syndrome
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Tyrosine→Norepinephrine
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- Dopamine beta hydroxylase deficiency
- reverse: Brunner syndrome
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G→oxaloacetate
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Urea cycle/Hyperammonemia
(arginine
|
- Argininemia
- Argininosuccinic aciduria
- Carbamoyl phosphate synthetase I deficiency
- Citrullinemia
- N-Acetylglutamate synthase deficiency
- Ornithine transcarbamylase deficiency/translocase deficiency
|
|
|
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Transport/
IE of RTT |
- Solute carrier family: Cystinuria
- Hartnup disease
- Iminoglycinuria
- Lysinuric protein intolerance
- Fanconi syndrome: Oculocerebrorenal syndrome
- Cystinosis
|
|
| Other |
- 2-Hydroxyglutaric aciduria
- Aminoacylase 1 deficiency
- Ethylmalonic encephalopathy
- Fumarase deficiency
- Trimethylaminuria
|
UpToDate Contents
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English Journal
- Old treatments for new insights and strategies: proposed management in adults and children with alkaptonuria.
- Arnoux JB1, Le Quan Sang KH, Brassier A, Grisel C, Servais A, Wippf J, Dubois S, Sireau N, Job-Deslandre C, Ranganath L, de Lonlay P.
- Journal of inherited metabolic disease.J Inherit Metab Dis.2015 Apr 10. [Epub ahead of print]
- Alkaptonuria (AKU) is caused by deficiency of the enzyme homogentisate 1,2 dioxygenase. It results in an accumulation of homogentisate which oxidizes spontaneously to benzoquinone acetate, a highly oxidant compound, which polymerises to a melanin-like structure, in a process called ochronosis. Asymp
- PMID 25860819
- 50 years ago in The Journal of Pediatrics: Tyrosinemia--an inborn error of tyrosine metabolism with cirrhosis of the liver and multiple renal defects.
- Andersson HC1.
- The Journal of pediatrics.J Pediatr.2015 Apr;166(4):896. doi: 10.1016/j.jpeds.2014.11.006. Epub 2014 Nov 6.
- PMID 25819913
- Synthesis and bioevaluation of pyrazole-benzimidazolone hybrids as novel human 4-Hydroxyphenylpyruvate dioxygenase inhibitors.
- Xu YL1, Lin HY1, Ruan X1, Yang SG1, Hao GF1, Yang WC2, Yang GF3.
- European journal of medicinal chemistry.Eur J Med Chem.2015 Mar 6;92:427-38. doi: 10.1016/j.ejmech.2015.01.018. Epub 2015 Jan 10.
- 4-Hydroxyphenylpyruvate dioxygenase (HPPD), an essential enzyme in tyrosine catabolism, is an important target for treating type I tyrosinemia. Inhibition of HPPD can effectively alleviate the symptoms of type I tyrosinemia. However, only one commercial HPPD inhibitor, 2-(2-nitro-4-trifluoromethylbe
- PMID 25590863
Japanese Journal
- KITAGAWA Teruo
- Proceedings of the Japan Academy, Series B 88(5), 192-200, 2012
- … In 1957 Sakai and Kitagawa in Japan reported the clinical and biochemical findings in a patient with tyrosinemia, tyrosyluria, liver cirrhosis, and renal rickets. … Subsequently, reports were published from various countries of other patients with hepatorenal tyrosinemia (HRT). …
- NAID 130001924745
- Liquid chromatography tandem mass spectrometry method for the quantitation of NTBC (2-(nitro-4-trifluoromethylbenzoyl)1,3-cyclohexanedione) in plasma of tyrosinemia type 1 patients
- HEREBIAN Diran,SPIEKERKOTTER Ute,LAMSHOFT Marc,THIMM Eva,LARYEA Maurice,MAYATEPEK Ertan
- Journal of chromatography. B, Analytical technologies in the biomedical and life sciences 877(14), 1453-1459, 2009-05-15
- NAID 10028017531
- Succinylacetone-negative tyrosinemia type I : a case report from China
- SONG Yuanzong,HUANG Xiaochun,ZHANG Ting,WANG Zineng
- 日本先天代謝異常学会雑誌 22(1), 63-65, 2006-06-23
- NAID 10018149985
Related Links
- Type 1 Tyrosinemia, also known as hepatorenal tyrosinemia, is the most severe form of tyrosinemia. It is caused by a deficiency of the enzyme fumarylacetoacetate hydrolase and p-hydroxyphenylpyruvic acid oxidase (EC 3.7 .1.2).
- There are three types of tyrosinemia. Each has distinctive symptoms and is caused by the deficiency of a different enzyme. Type I tyrosinemia, the most severe form of this disorder, is caused by a shortage of the enzyme fumarylacetoacetate ...
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★リンクテーブル★
[★]
- 英
- type I tyrosinemia
- 関
- チロシン血症、遺伝性チロシン血症
[★]
遺伝性チロシン血症
- 関
- type I tyrosinemia、tyrosinemia
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- 関
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