Galactosemia Expert Perspectives скачать в хорошем качестве

Galactosemia Expert Perspectives

Judith L. Fridovich-Keil, PhD, Director, Fridovich-Keil Lab, Professor, Emory University School of Medicine. and Gerald T. Berry, MD, Director of the Metabolism Program, Boston Children’s Hospital, and Professor, Harvard Medical School, provided a clinical overview of Type 1 galactosemia. They shared how galactose enters the body (through diet or endogenous production) and how it exits through galactose metabolism. The metabolic pathway, called the Leloir pathway, is interrupted by a deficiency of the GALT enzyme in patients with Type 1 galactosemia. The experts explained the genetics, screening and diagnostics, prevalence, and impact of mutations on GALT activity. They stated that dietary modification is necessary to prevent the life-threatening complications in newborns, but it is not sufficient for preventing lifelong cognitive, neurological, and speech complications, as well as premature ovarian function. The clinical experts shared data comparing some of these complications in patients with classic galactosemia versus unaffected siblings. Lastly, they shared perspectives on the need for treatment options in this disorder. Gerald T. Berry, MD, Director, Metabolism Program Boston Children’s Hospital and Professor, Harvard Medical School Judith L. Fridovich-Keil, PhD, Professor, Emory University School of Medicine