
Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Galactosemia secondary prevention
Introduction
Overview
Overview
Secondary prevention of galactosemia consists of newborn screening and dietary modifications.
Secondary Prevention
Secondary Prevention
Neonatal screening for galactosemia has already been implemented in many countries and has proven to be of benefit.[1]
A galactose-restricted diet, introduced within the first week of life, can resolve the clinical picture to a significant extent.[2] The current recommendation is to eliminate galactose and lactose from dairy products, but permitting intake of galactose from non-milk sources.[2]
References
References
- ↑ Waisbren SE, Read CY, Ampola M, Brewster TG, Demmer L, Greenstein R; et al. (2002). “Newborn screening compared to clinical identification of biochemical genetic disorders”. J Inherit Metab Dis. 25 (7): 599–600. doi:10.1023/a:1022003726224. PMID 12638945.
- ↑ 2.0 2.1 Welling L, Bernstein LE, Berry GT, Burlina AB, Eyskens F, Gautschi M; et al. (2017). “International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up”. J Inherit Metab Dis. 40 (2): 171–176. doi:10.1007/s10545-016-9990-5. PMC 5306419. PMID 27858262.
- ↑ 3.0 3.1 Thompson SM, Arrowsmith FE, Allen JR (2003). “Dietary management of galactosemia”. Southeast Asian J Trop Med Public Health. 34 Suppl 3: 212–4. PMID 15906738.
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Sujaya Chattopadhyay, M.D.[2]
