Galactosemia secondary prevention: Difference between revisions
Jump to navigation
Jump to search
| Line 9: | Line 9: | ||
[[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> | [[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]]=== | ===[[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> | |||
==References== | ==References== | ||
Revision as of 10:27, 5 July 2022
|
Galactosemia Microchapters |
|
Diagnosis |
|---|
|
Treatment |
|
Case Studies |
|
Galactosemia secondary prevention On the Web |
|
American Roentgen Ray Society Images of Galactosemia secondary prevention |
|
Risk calculators and risk factors for 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
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.