高チロシン血症
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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2012/11/08 14:16:26」(JST)
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This article needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed. (December 2007) |
| Tyrosinemia |
| Classification and external resources |
Tyrosine |
| ICD-10 |
E70.2 |
| ICD-9 |
270.2 |
| OMIM |
276700 276600 276710 |
| DiseasesDB |
13478 13486 29836 |
| eMedicine |
ped/2339 |
| MeSH |
D020176 |
Tyrosinemia (or "Tyrosinaemia") is an error of metabolism, usually inborn, in which the body cannot effectively break down the amino acid tyrosine. Symptoms include liver and kidney disturbances and mental retardation. Untreated, tyrosinemia can be fatal.
Most inborn forms of tyrosinemia produce hypertyrosinemia (high levels of tyrosine).[1]
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Contents
- 1 Types
- 2 Treatment
- 3 See also
- 4 References
- 5 External links
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Types
Tyrosinemia is inherited in an autosomal recessive pattern.
There are three types of tyrosinemia, each with distinctive symptoms and caused by the deficiency of a different enzyme.
- Type I tyrosinemia
- Type II tyrosinemia
- Type III tyrosinemia
Treatment
Treatment varies depending on the specific type. A low protein diet may be required in the management of tyrosinemia. Recent experience with NTBC has shown to be very effective. The most effective treatment in patients with tyrosinemia type I seems to be full or partial liver transplant.
See also
- Alkaptonuria
- Inborn error of metabolism
- Ochronosis
References
- ^ Charles Scriver, Beaudet, A.L., Valle, D., Sly, W.S., Vogelstein, B., Childs, B., Kinzler, K.W. (Accessed 2007). The Online Metabolic and Molecular Bases of Inherited Disease. Chapter 79. New York: McGraw-Hill.
External links
- GeneReview/NCBI/NIH/UW entry on Tyrosinemia Type 1
- University of Washington
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Inborn error of amino acid metabolism (E70–E72, 270)
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| K→acetyl-CoA |
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Lysine/straight chain
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- Glutaric acidemia type 1
- type 2
- Hyperlysinemia
- Pipecolic acidemia
- Saccharopinuria
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Leucine
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- Maple syrup urine disease
- Isovaleric acidemia
- 3-Methylcrotonyl-CoA carboxylase deficiency
- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
- 3-Methylglutaconic aciduria 1
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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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- Sarcosinemia
- D-Glyceric acidemia
- Glutathione synthetase deficiency
- Glycine→Creatine: GAMT deficiency
- Glycine encephalopathy
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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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- Maple syrup urine disease
- Hypervalinemia
- Isobutyryl-CoA dehydrogenase deficiency
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Isoleucine
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- Maple syrup urine disease
- Beta-ketothiolase deficiency
- 2-Methylbutyryl-CoA dehydrogenase deficiency
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Methionine
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- Hypermethioninemia
- Homocystinuria
- Cystathioninuria
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General BC/OA
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- Propionic acidemia
- Methylmalonic acidemia
- Methylmalonyl-CoA mutase deficiency
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G→fumarate
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Phenylalanine/tyrosine
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Phenylketonuria
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- Tetrahydrobiopterin deficiency
- 6-Pyruvoyltetrahydropterin synthase deficiency
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Tyrosinemia
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- Type II tyrosinemia
- Type III tyrosinemia/Hawkinsinuria
- Alkaptonuria/Ochronosis
- Type I tyrosinemia
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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
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- N-Acetylglutamate synthase deficiency
- Carbamoyl phosphate synthetase I deficiency
- Ornithine transcarbamylase deficiency/translocase deficiency
- Citrullinemia
- Argininosuccinic aciduria
- Argininemia
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Transport/
IE of RTT |
- Solute carrier family: Cystinuria
- Hartnup disease
- Lysinuric protein intolerance
- Iminoglycinuria
- Fanconi syndrome: Oculocerebrorenal syndrome
- Cystinosis
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| Other |
- Trimethylaminuria
- 2-Hydroxyglutaric aciduria
- Fumarase deficiency
- Ethylmalonic encephalopathy
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mt, k, c/g/r/p/y/i, f/h/s/l/o/e, a/u, n, m
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k, cgrp/y/i, f/h/s/l/o/e, au, n, m, epon
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m(A16/C10),i(k, c/g/r/p/y/i, f/h/s/o/e, a/u, n, m)
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UpToDate Contents
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English Journal
- [Humanized mice for the study of hepatitis C].
- Gilgenkrantz H.
- Medecine sciences : M/S.Med Sci (Paris).2011 Jun-Jul;27(6-7):587-9. Epub 2011 Jul 1.
- PMID 21718641
- Liver transplantation for hereditary tyrosinemia type I: analysis of the UNOS database.
- Arnon R, Annunziato R, Miloh T, Wasserstein M, Sogawa H, Wilson M, Suchy F, Kerkar N.SourceDepartment of Pediatrics, Mount Sinai School of Medicine, New York, NY, USA. Ronen.arnon@mountsinai.org
- Pediatric transplantation.Pediatr Transplant.2011 Jun;15(4):400-5. doi: 10.1111/j.1399-3046.2011.01497.x. Epub 2011 Apr 19.
- Patients with HT-1 can develop progressive liver disease and have a high incidence of HCC. LT is indicated in patients with fulminant liver failure, HCC or decompensated chronic liver disease refractory to NTBC. To determine the need for LT and outcomes after LT in children with HT-1. Children with
- PMID 21504522
Japanese Journal
- アデノウイルスベクターを用いた高チロジン血症III型マウスの遺伝子治療
- 久保 秀司,木脇 弘二,粟田 久多佳,遠藤 文夫,鐘ヶ江 裕美,斉藤 泉,加藤 秀樹,松田 一郎
- 日本先天代謝異常学会雑誌 11(2), 140, 1995-10-05
- NAID 10018923156
- A nonsense mutation in the 4-hydroxyphenylpyruvic acid dioxygenase gene (Hpd) causes skipping of the constitutive exon and hypertyrosinemia in mouse strain III
Related Links
- ... break down the amino acid tyrosine. Symptoms include liver and kidney disturbances and mental retardation. Untreated, tyrosinemia can be fatal. Most inborn forms of tyrosinemia produce hypertyrosinemia (high levels of tyrosine). ...
Related Pictures
★リンクテーブル★
[★]
- 英
- tyrosinemia
- 同
- 高チロシン血症 hypertyrosinemia
- 関
- アミノ酸代謝異常症
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