Galactosemia Microchapters

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:  Sujaya Chattopadhyay, M.D.[2]

## Overview[edit | edit source]

Galactosemia is an autosomal recessive disorder which is caused by dysfunction of the enzymes] involved in the Leloir pathway of galactose metabolism.

## Causes[edit | edit source]

Galactosemia is inherited in an autosomal recessive manner when one faulty gene is acquired from each of the carrier parents. The mutations responsible are as follows [1]:

### Type I/ Classical galactosemia[edit | edit source]

Impaired functioning of the GALT gene, leading to absence of the galactose-1-phosphate uridyl transferase enzyme [2].

#### Duarte variant[edit | edit source]

GALT gene dysfunction causes reduction of enzyme activity to 50 % [2]

### Type II galactosemia[edit | edit source]

Abnormality in the GALK1 gene [3]

### Type III galactosemia[edit | edit source]

Variation in the activity of the GALE gene [4]

### Type IV galactosemia[edit | edit source]

Biallelic mutations in the GALM gene [5]

## References[edit | edit source]

1. ↑ Demirbas D, Coelho AI, Rubio-Gozalbo ME, Berry GT (2018). "Hereditary galactosemia". Metabolism. 83: 188–196. doi:10.1016/j.metabol.2018.01.025. PMID 29409891.CS1 maint: Multiple names: authors list (link)
2. ↑ 2.0 2.1 Elsas LJ, Lai K (1998). "The molecular biology of galactosemia". Genet Med. 1 (1): 40–8. doi:10.1097/00125817-199811000-00009. PMID 11261429.
3. ↑ "StatPearls". 2022. PMID 32809518 Check `|pmid=` value (help).
4. ↑ Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW; et al. (1993). "GeneReviews®". PMID 21290786.CS1 maint: Multiple names: authors list (link)
5. ↑ Iwasawa S, Kikuchi A, Wada Y, Arai-Ichinoi N, Sakamoto O, Tamiya G; et al. (2019). "The prevalence of GALM mutations that cause galactosemia: A database of functionally evaluated variants". Mol Genet Metab. 126 (4): 362–367. doi:10.1016/j.ymgme.2019.01.018. PMID 30910422.CS1 maint: Multiple names: authors list (link)

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