David Trainor, parent of an adult son with galactosemia, discusses the recent publication of Navigating Galactosemia Life Stages: A Handbook for the Galactosemia Community.
Galactosemia is a rare metabolism disorder that affects the body’s ability to convert galactose to glucose. The disorder is caused by a deficiency of an enzyme galactose-1-phosphate uridylyl transferase (GALT) which is vital to conversion of galactose to glucose. As galactose is present in breast milk and produced by the human body, within a few days or weeks, infants with this condition lose their appetite and start vomiting excessively. Jaundice, hepatomegaly, appearance of amino acids and protein in the urine, growth failure, and, ultimately, ascites with edema may also occur. Diarrhea, irritability, lethargy and a bacterial infection may also be early signs of galactosemia. In time, wasting of body tissues, marked weakness, and extreme weight loss occur unless lactose is removed from the diet.
No treatments are currently approved for galactosemia. The current standard of care – a galactose-restricted diet – helps to avoid death in the newborn period but is insufficient in the long-term because the body endogenously produces galactose. Diet is not able to help patients avoid potential severe lifelong complications including profound intellectual disability.
Through a collaboration between the Galactosemia Foundation, and Jaguar Gene Therapy, Navigating Galactosemia Life Stages: A Handbook for the Galactosemia Community was published. As Mr. Trainor explains, it provides information for each life stage of type 1 galactosemia, with the goal of guiding patients and caregivers from diagnosis through adulthood. This handbook includes clinical guidelines, peer-reviewed data, expert insights, and first-hand experience from the galactosemia community.
To learn more about galactosemia and other rare metabolic disorders, visit checkrare.com/diseases/metabolic-disorders/
