Galactosemia is a clinically heterogeneous autosomal recessive inborn error of metabolism caused by deficiency of galactose-1-phosphate uridylyltransferase (GALT). Despite the numerous point mutations identified in the GALT gene, the prevalence of these mutations in different ethnic groups has not b
Molecular and Biochemical Basis of Galactosemia
โ Scribed by Boris B.T. Wang; Yan-Kang Xu; Won G. Ng; Lee-Jun C. Wong
- Book ID
- 115639373
- Publisher
- Elsevier Science
- Year
- 1998
- Tongue
- English
- Weight
- 215 KB
- Volume
- 63
- Category
- Article
- ISSN
- 1096-7192
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We evaluated 132 galactosemia patients for the Q188R (glutamine-188 to arginine) mutation in the human galactose-1-phosphate uridyltransferase (GALT) gene and for GALT activity in their hemolysates by a sensitive radioisotopic method. In those without any detectable GALT activity (GG), the Q188R mut
Communicated by Haig H. Kazazian, Jr. Classic galactosemia is an inborn error of galactose metabolism and results from deficiency of the ubiquitously expressed enzyme galactose-1 -phosphate uridyltransferase (GALT). Nine missense mu. tations, three splicing mutations, three GALT protein polymorphis
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