Galactosemia causes: Difference between revisions
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[[Galactosemia]] is inherited in an [[autosomal]] [[recessive]] manner when one faulty [[gene]] is acquired from each of the [[carrier]] parents. The [[mutations]] responsible are as follows <ref name="pmid29409891">{{cite journal| author=Demirbas D, Coelho AI, Rubio-Gozalbo ME, Berry GT| title=Hereditary galactosemia. | journal=Metabolism | year= 2018 | volume= 83 | issue= | pages= 188-196 | pmid=29409891 | doi=10.1016/j.metabol.2018.01.025 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29409891 }} </ref>: | [[Galactosemia]] is inherited in an [[autosomal]] [[recessive]] manner when one faulty [[gene]] is acquired from each of the [[carrier]] parents. The [[mutations]] responsible are as follows <ref name="pmid29409891">{{cite journal| author=Demirbas D, Coelho AI, Rubio-Gozalbo ME, Berry GT| title=Hereditary galactosemia. | journal=Metabolism | year= 2018 | volume= 83 | issue= | pages= 188-196 | pmid=29409891 | doi=10.1016/j.metabol.2018.01.025 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29409891 }} </ref>: | ||
* '''Type I/ Classic [[galactosemia]]''' : Impaired functioning of the [[GALT]] [[gene]], leading to absence of the [[galactose-1-phosphate uridyl transferase]] [[enzyme]] <ref name="pmid11261429">{{cite journal| author=Elsas LJ, Lai K| title=The molecular biology of galactosemia. | journal=Genet Med | year= 1998 | volume= 1 | issue= 1 | pages= 40-8 | pmid=11261429 | doi=10.1097/00125817-199811000-00009 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11261429 }} </ref>. | |||
====Duarte variant==== : [[GALT]] gene dysfunction causes reduction of [[enzyme]] activity to 50 % <ref name="pmid11261429">{{cite journal| author=Elsas LJ, Lai K| title=The molecular biology of galactosemia. | journal=Genet Med | year= 1998 | volume= 1 | issue= 1 | pages= 40-8 | pmid=11261429 | doi=10.1097/00125817-199811000-00009 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11261429 }} </ref> | ====Duarte variant==== : [[GALT]] gene dysfunction causes reduction of [[enzyme]] activity to 50 % <ref name="pmid11261429">{{cite journal| author=Elsas LJ, Lai K| title=The molecular biology of galactosemia. | journal=Genet Med | year= 1998 | volume= 1 | issue= 1 | pages= 40-8 | pmid=11261429 | doi=10.1097/00125817-199811000-00009 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11261429 }} </ref> | ||
===Type II [[galactosemia]]=== : Abnormality in the [[GALK1]] [[gene]] <ref name="pmid32809518">{{cite journal| author=| title=StatPearls | journal= | year= 2022 | volume= | issue= | pages= | pmid=32809518 | doi= | pmc= | url= }} </ref> | ===Type II [[galactosemia]]=== : Abnormality in the [[GALK1]] [[gene]] <ref name="pmid32809518">{{cite journal| author=| title=StatPearls | journal= | year= 2022 | volume= | issue= | pages= | pmid=32809518 | doi= | pmc= | url= }} </ref> | ||
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Dayana Davidis, M.D. [2]
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Overview
Causes
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [3]; Associate Editor(s)-in-Chief:
Galactosemia is inherited in an autosomal recessive manner when one faulty gene is acquired from each of the carrier parents. The mutations responsible are as follows [1]:
- Type I/ Classic galactosemia : Impaired functioning of the GALT gene, leading to absence of the galactose-1-phosphate uridyl transferase enzyme [2].
====Duarte variant==== : GALT gene dysfunction causes reduction of enzyme activity to 50 % [2] ===Type II galactosemia=== : Abnormality in the GALK1 gene [3] ===Type III galactosemia=== : Variation in the activity of the GALE gene [4] ===Type IV galactosemia=== :Biallelic mutations in the GALM gene [5]
References
- ↑ Demirbas D, Coelho AI, Rubio-Gozalbo ME, Berry GT (2018). "Hereditary galactosemia". Metabolism. 83: 188–196. doi:10.1016/j.metabol.2018.01.025. PMID 29409891.
- ↑ 2.0 2.1 Elsas LJ, Lai K (1998). "The molecular biology of galactosemia". Genet Med. 1 (1): 40–8. doi:10.1097/00125817-199811000-00009. PMID 11261429.
- ↑ "StatPearls". 2022. PMID 32809518 Check
|pmid=value (help). - ↑ Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW; et al. (1993). "GeneReviews®". PMID 21290786.
- ↑ Iwasawa S, Kikuchi A, Wada Y, Arai-Ichinoi N, Sakamoto O, Tamiya G; et al. (2019). "The prevalence of GALM mutations that cause galactosemia: A database of functionally evaluated variants". Mol Genet Metab. 126 (4): 362–367. doi:10.1016/j.ymgme.2019.01.018. PMID 30910422.