Galactosemia secondary prevention
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Sujaya Chattopadhyay, M.D.[2]
Overview
Secondary Prevention
Newborn screening
Neonatal screening for galactosemia has already been implemented in many countries and has proven to be of benefit.[1]
Diet
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
- ↑ 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.