Galactosemia secondary prevention

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Sujaya Chattopadhyay, M.D.[2]

Overview

Secondary prevention of galactosemia consists of newborn screening and dietary modifications.

Secondary Prevention

Newborn screening

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]

Breastfeeding must be substituted with a soy formula^[3].
Certain solid foods containing free galactose may need to be avoided or fed in limited quantities only. There is no restriction however, on other fruits and vegetables or other nutrients such as calcium^[3].

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.

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[pmid12638945-1] 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.

[pmid27858262-2] 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.

[pmid15906738-3] 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.

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[2]

[3]

Galactosemia secondary prevention

Overview

Secondary Prevention

Newborn screening

Diet

References

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