Galactosemia causes: Difference between revisions
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{{Galactosemia}} | {{Galactosemia}} | ||
{{CMG}}; {{AE}} {{ | {{CMG}}; {{AE}} {{Sujaya}} | ||
==Overview== | ==Overview== | ||
[[Galactosemia]] is an [[autosomal]] [[recessive]] disorder which is caused by dysfunction of the [[enzymes]]] involved in the [[Leloir]] [[pathway]] of [[galactose]] [[metabolism]]. | |||
Galactosemia is an | ==Causes== | ||
[[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/ Classical [[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> | |||
== | ===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 III [[galactosemia]]=== | |||
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]]=== | |||
[[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> | |||
==References== | ==References== | ||
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{{Metabolic pathology}} | {{Metabolic pathology}} | ||
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Latest revision as of 15:04, 18 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
Galactosemia is an autosomal recessive disorder which is caused by dysfunction of the enzymes] involved in the Leloir pathway of galactose metabolism.
Causes
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/ Classical 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.