Galactosemia pathophysiology: Difference between revisions
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== Overview== | == Overview== | ||
==Pathophysiology== | ==Pathophysiology== | ||
*Galactose is an important metabolite of the human body both for neonatal and adult health, playing a vital role in systemic and cognitive development. <ref name="pmid26001656">{{cite journal| author=Coelho AI, Berry GT, Rubio-Gozalbo ME| title=Galactose metabolism and health. | journal=Curr Opin Clin Nutr Metab Care | year= 2015 | volume= 18 | issue= 4 | pages= 422-7 | pmid=26001656 | doi=10.1097/MCO.0000000000000189 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26001656 }} </ref> | *[[Galactose]] is an important [[metabolite]] of the human body both for [[neonatal]] and adult [[health]], playing a vital role in systemic and [[cognitive]] [[development]]. <ref name="pmid26001656">{{cite journal| author=Coelho AI, Berry GT, Rubio-Gozalbo ME| title=Galactose metabolism and health. | journal=Curr Opin Clin Nutr Metab Care | year= 2015 | volume= 18 | issue= 4 | pages= 422-7 | pmid=26001656 | doi=10.1097/MCO.0000000000000189 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26001656 }} </ref> | ||
* | * | ||
==='''Physiology'''=== | ==='''Physiology'''=== | ||
Galactose is metabolised in the body through the Leloir pathway. <ref name="pmid12923184">{{cite journal| author=Holden HM, Rayment I, Thoden JB| title=Structure and function of enzymes of the Leloir pathway for galactose metabolism. | journal=J Biol Chem | year= 2003 | volume= 278 | issue= 45 | pages= 43885-8 | pmid=12923184 | doi=10.1074/jbc.R300025200 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12923184 }} </ref> | [[Galactose]] is metabolised in the body through the [[Leloir]] pathway. <ref name="pmid12923184">{{cite journal| author=Holden HM, Rayment I, Thoden JB| title=Structure and function of enzymes of the Leloir pathway for galactose metabolism. | journal=J Biol Chem | year= 2003 | volume= 278 | issue= 45 | pages= 43885-8 | pmid=12923184 | doi=10.1074/jbc.R300025200 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12923184 }} </ref> | ||
* It begins with conversion of B-D-galactose to A-D-galactose | * It begins with conversion of [[B-D-galactose]]] to [[A-D-galactose]] | ||
*A-D-galactose is then converted to galactose-1-phosphate by the enzyme galactokinase with utilisation of 1 molecule of ATP | *[[A-D-galactose]] is then converted to [[galactose-1-phosphate]] by the enzyme [[galactokinase]] with utilisation of 1 molecule of [[ATP]] | ||
* Galactose-1-phosphate combines with UDP-glucose to form UDP-galactose and the metabolically more useful glucose-1-phosphate with the help of the enzyme galactose-1-phosphate uridyl transferase. | * [[Galactose-1-phosphate]] combines with [[UDP-glucose]] to form [[UDP-galactose]] and the [[metabolically]] more useful [[glucose-1-phosphate]] with the help of the [[enzyme]] [[galactose-1-phosphate uridyl transferase]]. | ||
*UDP-Galactose can undergo isomerisation in a reversible manner into UDP-glucose. | *[[UDP-Galactose]] can undergo [[isomerisation]] in a [[reversible]] manner into [[UDP-glucose]]. | ||
==='''Pathology'''=== | ==='''Pathology'''=== | ||
Revision as of 12:44, 11 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]
Overview
Pathophysiology
- Galactose is an important metabolite of the human body both for neonatal and adult health, playing a vital role in systemic and cognitive development. [1]
Physiology
Galactose is metabolised in the body through the Leloir pathway. [2]
- It begins with conversion of B-D-galactose] to A-D-galactose
- A-D-galactose is then converted to galactose-1-phosphate by the enzyme galactokinase with utilisation of 1 molecule of ATP
- Galactose-1-phosphate combines with UDP-glucose to form UDP-galactose and the metabolically more useful glucose-1-phosphate with the help of the enzyme galactose-1-phosphate uridyl transferase.
- UDP-Galactose can undergo isomerisation in a reversible manner into UDP-glucose.
Pathology
References
- ↑ Coelho AI, Berry GT, Rubio-Gozalbo ME (2015). "Galactose metabolism and health". Curr Opin Clin Nutr Metab Care. 18 (4): 422–7. doi:10.1097/MCO.0000000000000189. PMID 26001656.
- ↑ Holden HM, Rayment I, Thoden JB (2003). "Structure and function of enzymes of the Leloir pathway for galactose metabolism". J Biol Chem. 278 (45): 43885–8. doi:10.1074/jbc.R300025200. PMID 12923184.