Galactosemia

Definition:

Galactosemia (GALAC) is an autosomal recessive disorder caused by a defect in one of the enzyme genes for galactose metabolism. Newborns with the enzyme deficiency cannot properly metabolize milk sugar. Without treatment, toxic metabolites can cause severe growth problems including cataracts.

References:

[1]. Annet M Bosch, et al. Classical galactosaemia revisited. J Inherit Metab Dis. 2006 Aug;29(4):516-25. [Content Brief]

[2]. D Stambolian, et al. Cloning of the galactokinase cDNA and identification of mutations in two families with cataracts. Nat Genet. 1995 Jul;10(3):307-12. [Content Brief]

[3]. Judith L Fridovich-Keil, et al. Galactosemia: the good, the bad, and the unknown. J Cell Physiol. 2006 Dec;209(3):701-5. [Content Brief]

[4]. T M Wohlers, et al. Identification and characterization of a mutation, in the human UDP-galactose-4-epimerase gene, associated with generalized epimerase-deficiency galactosemia. Am J Hum Genet. 1999 Feb;64(2):462-70. [Content Brief]

[5]. Yoichi Wada, et al. Biallelic GALM pathogenic variants cause a novel type of galactosemia. Genet Med. 2019 Jun;21(6):1286-1294. [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.