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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2013/04/05 19:36:55」(JST)

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Cystathioninuria, also called cystathionase deficiency, is an autosomal recessive^[1] metabolic disorder that results in an excess of cystathionine in the urine. It is associated with a congenital dysfunction of the enzyme cystathionase, or acquired deficiency of vitamin B₆ which is essential for the function of this enzyme. The latter is usually related to an overall deficiency of all the B-complex vitamins.

Genetics

Cystathioninuria has an autosomal recessive pattern of inheritance.

Cystathioninuria is inherited in an autosomal recessive manner.^[1] This means the defective gene responsible for the disorder is located on an autosome, and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.

Pathophysiology

Cysteine metabolism. Cystathionine gamma-lyase (cystathionase) catalyzes the lower reaction.

References

^ ^a ^b Online 'Mendelian Inheritance in Man' (OMIM) 219500

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1. 水溶性ビタミンの概要 overview of water soluble vitamins

English Journal

Neutral aminoaciduria in cystathionine β-synthase-deficient mice; an animal model of homocystinuria.

Akahoshi N1, Kamata S2, Kubota M2, Hishiki T3, Nagahata Y3, Matsuura T3, Yamazaki C4, Yoshida Y4, Yamada H4, Ishizaki Y4, Suematsu M3, Kasahara T2, Ishii I5.
American journal of physiology. Renal physiology.Am J Physiol Renal Physiol.2014 Jun 15;306(12):F1462-76. doi: 10.1152/ajprenal.00623.2013. Epub 2014 Apr 23.
The kidney is one of the major loci for the expression of cystathionine β-synthase (CBS) and cystathionine γ-lyase (CTH). While CBS-deficient (Cbs(-/-)) mice display homocysteinemia/methioninemia and severe growth retardation, and rarely survive beyond the first 4 wk, CTH-deficient (Cth(-/-)) mice
PMID 24761004

[Cystathionine γ-lyase].

Jurkowska H1, Kaczor-Kamińska M1, Bronowicka-Adamska P1, Wróbel M1.
Postȩpy higieny i medycyny doświadczalnej (Online).Postepy Hig Med Dosw (Online).2014 Jan 15;68:1-9. doi: 10.5604/17322693.1085372.
γ-Cystathionase (CTH, EC: 4.4.1.1), an enzyme widely distributed in the world of prokaryotic and eukaryotic organisms, catalyzes the formation and transformations of sulfane sulfur-containing compounds and plays a pivotal role in the L-cysteine desulfuration pathway. Human, tetrameric CTH is compos
PMID 24491890

Methionine excess in diet induces acute lethal hepatitis in mice lacking cystathionine γ-lyase, an animal model of cystathioninuria.

Yamada H1, Akahoshi N, Kamata S, Hagiya Y, Hishiki T, Nagahata Y, Matsuura T, Takano N, Mori M, Ishizaki Y, Izumi T, Kumagai Y, Kasahara T, Suematsu M, Ishii I.
Free radical biology & medicine.Free Radic Biol Med.2012 May 1;52(9):1716-26. doi: 10.1016/j.freeradbiomed.2012.02.033. Epub 2012 Mar 3.
Physiological roles of the transsulfuration pathway have been recognized by its contribution to the synthesis of cytoprotective cysteine metabolites, such as glutathione, taurine/hypotaurine, and hydrogen sulfide (H(2)S), whereas its roles in protecting against methionine toxicity remained to be cla
PMID 22387178