Leukotriene C4 synthase deficiency

Definition:

Leukotriene C4 (LTC4) synthase deficiency is an inborn error of metabolism linked to a fatal developmental syndrome. It is characterised by severe muscular hypotonia, psychomotor retardation, failure to thrive, microcephaly, and the total absence of cysteinyl leukotrienes in body fluids.

References:

[1]. E Mayatepek, et al. Defects in the synthesis of cysteinyl leukotrienes: a new group of inborn errors of metabolism. J Inherit Metab Dis. 2000 Jun;23(4):404-8. [Content Brief]

[2]. E Mayatepek, et al. Leukotriene C4 synthesis deficiency: a member of a probably underdiagnosed new group of neurometabolic diseases. Eur J Pediatr. 2000 Nov;159(11):811-8. [Content Brief]

[3]. E Mayatepek, et al. Leukotriene C4-synthesis deficiency: a new inborn error of metabolism linked to a fatal developmental syndrome. Lancet. 1998 Nov 7;352(9139):1514-7. [Content Brief]

Biomedical Dictionary

The Biomedical Dictionary is a comprehensive and professional collection of biological academic terms and subject datas. All explanations are supported by authoritative books or high impact factor literatures, and you can acquire accurate explanations of the biomedical terms you want to know.

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z #

Name
Email *

	Sorry, but the email address you supplied was invalid.