Aminoacylase 1 deficiency

Definition:

Aminoacylase 1 deficiency is an autosomal recessive disease characterized by accumulation of N-acetyl amino acids in the urine. In affected individuals neurological findings such as febrile seizures, delay of psychomotor development and moderate mental retardation have been reported.

References:

[1]. Anke Sommer, et al. The molecular basis of aminoacylase 1 deficiency. Biochim Biophys Acta. 2011 Jun;1812(6):685-90. [Content Brief]

[2]. Jorn Oliver Sass, et al. Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolism. Am J Hum Genet. 2006 Mar;78(3):401-9. [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.