WordNet
- a pattern of symptoms indicative of some disease
- a complex of concurrent things; "every word has a syndrome of meanings"
PrepTutorEJDIC
- (疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2012/10/27 21:07:24」(JST)
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Tyrosinemia type II |
Classification and external resources |
Tyrosine |
ICD-10 |
E70.2 |
ICD-9 |
270.2 |
OMIM |
276600 |
DiseasesDB |
13486 |
eMedicine |
ped/2339 |
MeSH |
D020176 |
Tyrosinemia type II (Oculocutaneous tyrosinemia,[1] Richner-Hanhart syndrome[1]:543) is an autosomal recessive condition with onset between ages 2 and 4 years, when painful circumscribed calluses develop on the pressure points of the palm of the hand and sole of the foot.[2]:512
Pathophysiology
Type II tyrosinemia is caused by a deficiency of the enzyme tyrosine aminotransferase (EC 2.6.1.5), encoded by the gene TAT. Tyrosine aminotransferase is the first in a series of five enzymes that converts tyrosine to smaller molecules, which are excreted by the kidneys or used in reactions that produce energy. This form of the disorder can affect the eyes, skin, and mental development. Symptoms often begin in early childhood and include excessive tearing, abnormal sensitivity to light (photophobia), eye pain and redness, and painful skin lesions on the palms and soles. About half of individuals with type II tyrosinemia are also mentally challenged. Type II tyrosinemia occurs in fewer than 1 in 250,000 individuals.[citation needed]
See also
- Palmoplantar keratoderma
- List of cutaneous conditions
References
- ^ a b James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
- ^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
Inborn error of amino acid metabolism (E70–E72, 270)
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K→acetyl-CoA |
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 |
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
- Genome editing with Cas9 in adult mice corrects a disease mutation and phenotype.
- Yin H1, Xue W1, Chen S2, Bogorad RL2, Benedetti E3, Grompe M3, Koteliansky V4, Sharp PA5, Jacks T6, Anderson DG7.
- Nature biotechnology.Nat Biotechnol.2014 Jun;32(6):551-3. doi: 10.1038/nbt.2884. Epub 2014 Mar 30.
- We demonstrate CRISPR-Cas9-mediated correction of a Fah mutation in hepatocytes in a mouse model of the human disease hereditary tyrosinemia. Delivery of components of the CRISPR-Cas9 system by hydrodynamic injection resulted in initial expression of the wild-type Fah protein in ∼1/250 liver cells
- PMID 24681508
- CRISPR technology for gene therapy.
- High K, Gregory PD, Gersbach C.
- Nature medicine.Nat Med.2014 May;20(5):476-7. doi: 10.1038/nm.3566.
- PMID 24804755
- An evaluation of the effects of acute and chronic L-tyrosine administration on BDNF levels and BDNF mRNA expression in the rat brain.
- Ferreira GK1, Scaini G, Jeremias IC, Carvalho-Silva M, Gonçalves CL, Pereira TC, Oliveira GM, Kist LW, Bogo MR, Schuck PF, Ferreira GC, Streck EL.
- Molecular neurobiology.Mol Neurobiol.2014 Apr;49(2):734-40. doi: 10.1007/s12035-013-8552-1. Epub 2013 Oct 4.
- Tyrosinemia type II, which is also known as Richner-Hanhart syndrome, is an inborn error of metabolism that is due to a block in the transamination reaction that converts tyrosine to p-hydroxyphenylpyruvate. Because the mechanisms of neurological dysfunction in hypertyrosinemic patients are poorly k
- PMID 24091827
Japanese Journal
- Richner-Hanhart syndrome : Report of a case with a novel mutation of tyrosine aminotransferase
- MINAMI HORI M.,ISHIDA YAMAMOTO A.,TAKAHASHI H.,IIZUKA H.,KATOH N.
- Journal of dermatological science 41(1), 82-84, 2006-01-01
- NAID 10020550873
Related Links
- Information about Richner-Hanhart syndrome in Free online English dictionary. What is Richner-Hanhart syndrome? Meaning of Richner-Hanhart syndrome medical term. What does Richner-Hanhart syndrome mean? forum Bing ? ...
- Richner-Hanhart syndrome symptoms, causes, diagnosis, and treatment information for Richner-Hanhart syndrome (Hanhart syndrome type IV) with alternative diagnoses, full-text book chapters, misdiagnosis, research treatments ...
Related Pictures
★リンクテーブル★
[★]
- 英
- Richner-Hanhart syndrome
- 関
- 遺伝性掌蹠角化症、チロジン症
[★]