Galactosemia historical perspective: Difference between revisions
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==Historical Perspective== | ==Historical Perspective== | ||
'''Discovery''' | |||
Galactosemia was first discovered by Von Ruess in 1908 on a breast- fed infant with failure to thrive, hepatosplenomegaly and galactosuria (increased galactose excretion in urine). The galactosuria stopped after elimination of dietary milk products but the infant ultimately succumbed to death. Autopsy showed liver cirrhosis, but the confirmation of the cause was not possible. It has been generally accepted that this was the first report of galactosemia. However, the first detailed report was given by Friedrich Goppert in 1917. <ref name="pmid26143117">{{cite journal| author=Timson DJ| title=The molecular basis of galactosemia - Past, present and future. | journal=Gene | year= 2016 | volume= 589 | issue= 2 | pages= 133-41 | pmid=26143117 | doi=10.1016/j.gene.2015.06.077 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26143117 }} </ref> | |||
'''Landmark events and development strategies''' | |||
* The disease was first recognized in detail in 1935 by Mason and Turner. <ref name="pmid28281081">{{cite journal| author=Coelho AI, Rubio-Gozalbo ME, Vicente JB, Rivera I| title=Sweet and sour: an update on classic galactosemia. | journal=J Inherit Metab Dis | year= 2017 | volume= 40 | issue= 3 | pages= 325-342 | pmid=28281081 | doi=10.1007/s10545-017-0029-3 | pmc=5391384 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28281081 }} </ref> | |||
* The defective gene (GALT) was found in 1988 after identification of the gene in 1956. <ref name="pmid2840550">{{cite journal| author=Reichardt JK, Berg P| title=Cloning and characterization of a cDNA encoding human galactose-1-phosphate uridyl transferase. | journal=Mol Biol Med | year= 1988 | volume= 5 | issue= 2 | pages= 107-22 | pmid=2840550 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2840550 }} </ref> | |||
* In 1963, it was first detected in a newborn using a screening method developed by Guthrie and Paigen. This was the second disorder detected by this method.<ref name="pmid26143117">{{cite journal| author=Timson DJ| title=The molecular basis of galactosemia - Past, present and future. | journal=Gene | year= 2016 | volume= 589 | issue= 2 | pages= 133-41 | pmid=26143117 | doi=10.1016/j.gene.2015.06.077 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26143117 }} </ref> | |||
* Increased newborn screening is a significant development for the galactosemic community. | |||
==References== | ==References== | ||
Revision as of 08:27, 4 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
Von Ruess in a 1908 publication entitled Sugar Excretion In Infancy reported on a breast fed infant with hepatomegaly and spleen enlargement, failure to thrive and galactosuria.
And Goppert first described the disease in 1917,[1] with its cause as a defect in galactose metabolism being identified by a group led byHerman Kalckar in 1956.[2]
Historical Perspective
Discovery
Galactosemia was first discovered by Von Ruess in 1908 on a breast- fed infant with failure to thrive, hepatosplenomegaly and galactosuria (increased galactose excretion in urine). The galactosuria stopped after elimination of dietary milk products but the infant ultimately succumbed to death. Autopsy showed liver cirrhosis, but the confirmation of the cause was not possible. It has been generally accepted that this was the first report of galactosemia. However, the first detailed report was given by Friedrich Goppert in 1917. [3]
Landmark events and development strategies
- The disease was first recognized in detail in 1935 by Mason and Turner. [4]
- The defective gene (GALT) was found in 1988 after identification of the gene in 1956. [5]
- In 1963, it was first detected in a newborn using a screening method developed by Guthrie and Paigen. This was the second disorder detected by this method.[3]
- Increased newborn screening is a significant development for the galactosemic community.
References
- ↑ Goppert F. Galaktosurie nach Milchzuckergabe bei angeborenem, familiaerem chronischem Leberleiden. Klin Wschr 1917;54:473-477.
- ↑ Isselbacher KJ, Anderson EP, Kurahashi K, Kalckar HM (1956). "Congenital galactosemia, a single enzymatic block in galactose metabolism". Science. 13 (123): 635–6. PMID 13311516.
- ↑ 3.0 3.1 Timson DJ (2016). "The molecular basis of galactosemia - Past, present and future". Gene. 589 (2): 133–41. doi:10.1016/j.gene.2015.06.077. PMID 26143117.
- ↑ Coelho AI, Rubio-Gozalbo ME, Vicente JB, Rivera I (2017). "Sweet and sour: an update on classic galactosemia". J Inherit Metab Dis. 40 (3): 325–342. doi:10.1007/s10545-017-0029-3. PMC 5391384. PMID 28281081.
- ↑ Reichardt JK, Berg P (1988). "Cloning and characterization of a cDNA encoding human galactose-1-phosphate uridyl transferase". Mol Biol Med. 5 (2): 107–22. PMID 2840550.