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==Overview==
==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]].


==Classification==
==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 <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==
{{Reflist|2}}
{{Reflist|2}}


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Latest revision as of 09:13, 10 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

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

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

  • Alterations in the gene coding for epimerase enzyme.[4] 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. [5]

References

  1. ↑ 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).
  2. ↑ 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.
  3. ↑ 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.
  4. ↑ Timson DJ (2006). "The structural and molecular biology of type III galactosemia". IUBMB Life. 58 (2): 83–9. doi:10.1080/15216540600644846. PMID 16611573.
  5. ↑ 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).

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