Ontology highlight
ABSTRACT:
SUBMITTER: Stockmann H
PROVIDER: S-EPMC4864864 | biostudies-literature | 2016
REPOSITORIES: biostudies-literature
Stockmann Henning H Coss Karen P KP Rubio-Gozalbo M Estela ME Knerr Ina I Fitzgibbon Maria M Maratha Ashwini A Wilson James J Rudd Pauline P Treacy Eileen P EP
JIMD reports 20150930
Classical galactosaemia (OMIM #230400) is a rare disorder of carbohydrate metabolism caused by deficiency of the galactose-1-phosphate uridyltransferase enzyme (EC 2.7.7.12). The cause of the long-term complications, including neurological, cognitive and fertility problems in females, remains poorly understood. The relatively small number of patients with galactosaemia and the lack of validated biomarkers pose a substantial challenge for determining prognosis and monitoring disease progression a ...[more]