Galactosemia Risk factors: Difference between revisions
Jump to navigation
Jump to search
No edit summary |
|||
| Line 4: | Line 4: | ||
[[Galactosemia]] is an [[inherited]] [[autosomal]] [[recessive]] [[disorder]] of [[galactose]] [[metabolism]]. Two [[defective]] [[alleles]] are necessary to manifest the condition.<ref name="pmid20301691">{{cite journal| author=Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW | display-authors=etal| title=GeneReviews® | journal= | year= 1993 | volume= | issue= | pages= | pmid=20301691 | doi= | pmc= | url= }} </ref> | [[Galactosemia]] is an [[inherited]] [[autosomal]] [[recessive]] [[disorder]] of [[galactose]] [[metabolism]]. Two [[defective]] [[alleles]] are necessary to manifest the condition.<ref name="pmid20301691">{{cite journal| author=Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW | display-authors=etal| title=GeneReviews® | journal= | year= 1993 | volume= | issue= | pages= | pmid=20301691 | doi= | pmc= | url= }} </ref> | ||
*Children born to [[carrier]] parents harboring the [[gene]](s) run the risk of developing [[galactosemia]]. | *Children born to [[carrier]] parents harboring the [[gene]](s) run the risk of developing [[galactosemia]]. | ||
* Therefore, every child born to [[carrier]] parents has a 25% chance of developing the [[disorder]]. | * Therefore, every child born to [[carrier]] parents has a 25% chance of developing the [[disorder]].<ref name="pmid16858969">{{cite journal| author=Boonyawat B, Kamolsilp M, Phavichitr N| title=Galactosemia in Thai patient at Phramongkutklao Hospital: a case report. | journal=J Med Assoc Thai | year= 2005 | volume= 88 Suppl 3 | issue= | pages= S275-80 | pmid=16858969 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16858969 }} </ref> | ||
==References== | ==References== | ||
Latest revision as of 16:14, 30 June 2022
Overview
The major risk factor for galactosemia is the presence of the defective gene(s).
Risk factors
Galactosemia is an inherited autosomal recessive disorder of galactose metabolism. Two defective alleles are necessary to manifest the condition.[1]
- Children born to carrier parents harboring the gene(s) run the risk of developing galactosemia.
- Therefore, every child born to carrier parents has a 25% chance of developing the disorder.[2]