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a pattern of symptoms indicative of some disease
a complex of concurrent things; "every word has a syndrome of meanings"

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(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

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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 (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]}

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.

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1. チロシン代謝障害 disorders of tyrosine metabolism
2. 全身疾患と関連した遺伝性ニューロパチー hereditary neuropathies associated with generalized disorders

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