Galactosemia causes: Difference between revisions
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Variation in the activity of the [[GALE]] [[gene]] <ref name="pmid21290786">{{cite journal| author=Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW | display-authors=etal| title=GeneReviews® | journal= | year= 1993 | volume= | issue= | pages= | pmid=21290786 | doi= | pmc= | url= }} </ref> | Variation in the activity of the [[GALE]] [[gene]] <ref name="pmid21290786">{{cite journal| author=Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW | display-authors=etal| title=GeneReviews® | journal= | year= 1993 | volume= | issue= | pages= | pmid=21290786 | doi= | pmc= | url= }} </ref> | ||
===Type IV galactosemia=== | ===Type IV [[galactosemia]]=== | ||
[[Biallelic]] [[mutations]] in the [[GALM]] [[gene]] <ref name="pmid30910422">{{cite journal| author=Iwasawa S, Kikuchi A, Wada Y, Arai-Ichinoi N, Sakamoto O, Tamiya G | display-authors=etal| title=The prevalence of GALM mutations that cause galactosemia: A database of functionally evaluated variants. | journal=Mol Genet Metab | year= 2019 | volume= 126 | issue= 4 | pages= 362-367 | pmid=30910422 | doi=10.1016/j.ymgme.2019.01.018 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=30910422 }} </ref> | [[Biallelic]] [[mutations]] in the [[GALM]] [[gene]] <ref name="pmid30910422">{{cite journal| author=Iwasawa S, Kikuchi A, Wada Y, Arai-Ichinoi N, Sakamoto O, Tamiya G | display-authors=etal| title=The prevalence of GALM mutations that cause galactosemia: A database of functionally evaluated variants. | journal=Mol Genet Metab | year= 2019 | volume= 126 | issue= 4 | pages= 362-367 | pmid=30910422 | doi=10.1016/j.ymgme.2019.01.018 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=30910422 }} </ref> | ||
Revision as of 07:47, 24 May 2022
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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
Galactosemia is an autosomal recessive disorder which is caused by dysfunction of the enzymes] involved in the Leloir pathway of galactose metabolism.
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.