Galactosemia secondary prevention: Difference between revisions
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__NOTOC__ | __NOTOC__ | ||
{{Galactosemia}} | {{Galactosemia}} | ||
{{CMG}} | {{CMG}} {{AE}} {{Sujaya}} | ||
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==Overview== | ==Overview== | ||
[[Secondary]] prevention of [[galactosemia]] consists of [[newborn]] [[screening]] and [[dietary]] modifications. | |||
==Secondary Prevention== | ==Secondary Prevention== | ||
===[[Newborn]] [[screening]]=== | |||
[[Neonatal]] [[screening]] for [[galactosemia]] has already been implemented in many countries and has proven to be of benefit.<ref name="pmid12638945">{{cite journal| author=Waisbren SE, Read CY, Ampola M, Brewster TG, Demmer L, Greenstein R | display-authors=etal| title=Newborn screening compared to clinical identification of biochemical genetic disorders. | journal=J Inherit Metab Dis | year= 2002 | volume= 25 | issue= 7 | pages= 599-600 | pmid=12638945 | doi=10.1023/a:1022003726224 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12638945 }} </ref> | |||
===[[Diet]]=== | |||
A [[galactose]]-restricted [[diet]], introduced within the first week of life, can resolve the [[clinical]] picture to a significant extent.<ref name="pmid27858262">{{cite journal| author=Welling L, Bernstein LE, Berry GT, Burlina AB, Eyskens F, Gautschi M | display-authors=etal| title=International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up. | journal=J Inherit Metab Dis | year= 2017 | volume= 40 | issue= 2 | pages= 171-176 | pmid=27858262 | doi=10.1007/s10545-016-9990-5 | pmc=5306419 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=27858262 }} </ref> The current recommendation is to eliminate [[galactose]] and [[lactose]] from dairy products, but permitting intake of [[galactose]] from non-milk sources.<ref name="pmid27858262">{{cite journal| author=Welling L, Bernstein LE, Berry GT, Burlina AB, Eyskens F, Gautschi M | display-authors=etal| title=International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up. | journal=J Inherit Metab Dis | year= 2017 | volume= 40 | issue= 2 | pages= 171-176 | pmid=27858262 | doi=10.1007/s10545-016-9990-5 | pmc=5306419 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=27858262 }} </ref> | |||
* [[Breastfeeding]] must be substituted with a [[soy]] formula<ref name="pmid15906738">{{cite journal| author=Thompson SM, Arrowsmith FE, Allen JR| title=Dietary management of galactosemia. | journal=Southeast Asian J Trop Med Public Health | year= 2003 | volume= 34 Suppl 3 | issue= | pages= 212-4 | pmid=15906738 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15906738 }} </ref>. | |||
* 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]]<ref name="pmid15906738">{{cite journal| author=Thompson SM, Arrowsmith FE, Allen JR| title=Dietary management of galactosemia. | journal=Southeast Asian J Trop Med Public Health | year= 2003 | volume= 34 Suppl 3 | issue= | pages= 212-4 | pmid=15906738 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15906738 }} </ref>. | |||
==References== | ==References== | ||
Latest revision as of 10:36, 19 August 2022
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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 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]
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]
- 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.