Galactosemia classification
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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
- 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).