Galactosemia classification: Difference between revisions
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==Types== | ==Types== | ||
===Galactosemia Type 1=== | [[Galactosemia]] refers to a group of [[autosomal recessive]] disorders of [[galactose]] [[metabolism]]. They are classified into the following types based on the enzymatic activity <ref name="pmid33562227">{{cite journal| author=Banford S, McCorvie TJ, Pey AL, Timson DJ| title=Galactosemia: Towards Pharmacological Chaperones. | journal=J Pers Med | year= 2021 | volume= 11 | issue= 2 | pages= | pmid=33562227 | doi=10.3390/jpm11020106 | pmc=7914515 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=33562227 }} </ref> | ||
===Type I/Classical=== | |||
*Defects in both copies of the [[gene]] that codes for the enzyme [[galactose-1-phosphate uridyl transferase]] or [[GALT]].<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>. | |||
*Most common and severe form. | |||
**Duarte galactosemia | |||
***Variant of classic galactosemia. | |||
***Galactose metabolised to some extent as GALT not completely absent | |||
***Less severe symptoms than other forms | |||
===Type II=== | |||
*Defect in both copies of the gene that codes for the enzyme galactokinase or GALK.<ref name="pmid15526155">{{cite journal| author=Holden HM, Thoden JB, Timson DJ, Reece RJ| title=Galactokinase: structure, function and role in type II galactosemia. | journal=Cell Mol Life Sci | year= 2004 | volume= 61 | issue= 19-20 | pages= 2471-84 | pmid=15526155 | doi=10.1007/s00018-004-4160-6 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15526155 }} </ref> | |||
*Less common and harmful than classic galactosemia. | |||
*Does not generally lead to hepatomegaly or brain damage. | |||
===Type III=== | |||
*Alterations in the [[gene]] coding for [[epimerase]] enzyme.<ref name="pmid16611573">{{cite journal| author=Timson DJ| title=The structural and molecular biology of type III galactosemia. | journal=IUBMB Life | year= 2006 | volume= 58 | issue= 2 | pages= 83-9 | pmid=16611573 | doi=10.1080/15216540600644846 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16611573 }} </ref> This is the mildest type. | |||
=== | ===Type IV=== | ||
*This type has only been discovered recently. | |||
*Abnormal changes in the [[galactose mutatrose]] enzyme, encoded by the GALM [[gene]], have been proven to cause the disorder. <ref name="pmid33181226">{{cite journal| author=Banford S, Timson DJ| title=The structural and molecular biology of type IV galactosemia. | journal=Biochimie | year= 2021 | volume= 183 | issue= | pages= 13-17 | pmid=33181226 | doi=10.1016/j.biochi.2020.11.001 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=33181226 }} </ref> | |||
=== | |||
==References== | ==References== | ||
Latest revision as of 09:13, 10 May 2022
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Galactosemia Microchapters |
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Diagnosis |
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Treatment |
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Case Studies |
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Galactosemia classification On the Web |
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American Roentgen Ray Society Images of Galactosemia classification |
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Risk calculators and risk factors for Galactosemia classification |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Dayana Davidis, M.D. [2]
Overview
Galactosemia consists of four types of disorders resulting from abnormal activity of the enzymes involved in galactose metabolism. Type I/ Classical is the most serious form of the disease.
Types
Galactosemia refers to a group of autosomal recessive disorders of galactose metabolism. They are classified into the following types based on the enzymatic activity [1]
Type I/Classical
- Defects in both copies of the gene that codes for the enzyme galactose-1-phosphate uridyl transferase or GALT.[2].
- Most common and severe form.
- Duarte galactosemia
- Variant of classic galactosemia.
- Galactose metabolised to some extent as GALT not completely absent
- Less severe symptoms than other forms
- Duarte galactosemia
Type II
- Defect in both copies of the gene that codes for the enzyme galactokinase or GALK.[3]
- Less common and harmful than classic galactosemia.
- Does not generally lead to hepatomegaly or brain damage.
Type III
Type IV
- This type has only been discovered recently.
- Abnormal changes in the galactose mutatrose enzyme, encoded by the GALM gene, have been proven to cause the disorder. [5]
References
- ↑ Banford S, McCorvie TJ, Pey AL, Timson DJ (2021). "Galactosemia: Towards Pharmacological Chaperones". J Pers Med. 11 (2). doi:10.3390/jpm11020106. PMC 7914515 Check
|pmc=value (help). PMID 33562227 Check|pmid=value (help). - ↑ 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.
- ↑ Holden HM, Thoden JB, Timson DJ, Reece RJ (2004). "Galactokinase: structure, function and role in type II galactosemia". Cell Mol Life Sci. 61 (19–20): 2471–84. doi:10.1007/s00018-004-4160-6. PMID 15526155.
- ↑ Timson DJ (2006). "The structural and molecular biology of type III galactosemia". IUBMB Life. 58 (2): 83–9. doi:10.1080/15216540600644846. PMID 16611573.
- ↑ Banford S, Timson DJ (2021). "The structural and molecular biology of type IV galactosemia". Biochimie. 183: 13–17. doi:10.1016/j.biochi.2020.11.001. PMID 33181226 Check
|pmid=value (help).