Ontology highlight
ABSTRACT:
SUBMITTER: Tran TT
PROVIDER: S-EPMC4501235 | biostudies-literature | 2015
REPOSITORIES: biostudies-literature
Tran Thanh-Thanh Claire V TT Liu Ying Y Zwick Michael E ME Ramachandran Dhanya D Cutler David J DJ Huang Xiaoping X Berry Gerard T GT Fridovich-Keil Judith L JL
JIMD reports 20150215
Classic galactosemia (CG) is a potentially lethal genetic disease that results from profound impairment of galactose-1-P uridylyltransferase (GALT), the middle enzyme in the Leloir pathway of galactose metabolism. Patients with CG carry pathogenic loss-of-function mutations in both of their GALT alleles; the parents of patients are considered obligate carriers. We report here a first exception to that rule - a de novo GALT variant in a patient with classic galactosemia. The new variant, c.563A>C ...[more]