A incidência estimada da doença de depósito de glicogênio 1 (DDG 1) é de 1 em 100,000 nascimentos.[1]Kishnani PS, Austin SL, Abdenur JE, et al. Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics. Genet Med. 2014 Nov;16(11):e1.
https://www.gimjournal.org/article/S1098-3600(21)02651-4/fulltext
http://www.ncbi.nlm.nih.gov/pubmed/25356975?tool=bestpractice.com
Aproximadamente 80% das pessoas com DDG têm DDG 1a, e 20% têm DDG 1b.[1]Kishnani PS, Austin SL, Abdenur JE, et al. Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics. Genet Med. 2014 Nov;16(11):e1.
https://www.gimjournal.org/article/S1098-3600(21)02651-4/fulltext
http://www.ncbi.nlm.nih.gov/pubmed/25356975?tool=bestpractice.com
A DDG 1 afeta os sexos igualmente e é transmitida como um caráter autossômico recessivo.
Para ambos os subtipos, foram reconhecidas variantes genéticas patogênicas comuns. Variantes comuns de G6PC1 incluem p.R83C (em pessoas de ascendência europeia, turcos e judeus asquenazes), p.Q347* (em europeus), c.648G>T (em chineses, japoneses e coreanos) e c.380insTA (em hispânicos).[4]Chou JY, Jun HS, Mansfield BC. Glycogen storage disease type 1 and G6Pase-beta deficiency: etiology and therapy. Nat Rev Endocrinol. 2010 Dec;6(12):676-88.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4178929
http://www.ncbi.nlm.nih.gov/pubmed/20975743?tool=bestpractice.com
[5]Ekstein J, Rubin BY, Anderson SL, et al. Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population. Am J Med Genet A. 2004 Aug 30;129A(2):162-4.
http://www.ncbi.nlm.nih.gov/pubmed/15316959?tool=bestpractice.com
[6]Seydewitz HH, Matern D. Molecular genetic analysis of 40 patients with glycogen storage disease type Ia: 100% mutation detection rate and 5 novel mutations. Hum Mutat. 2000 Jan;15(1):115-6.
https://onlinelibrary.wiley.com/doi/10.1002/(SICI)1098-1004(200001)15:1%3C115::AID-HUMU23%3E3.0.CO;2-W
http://www.ncbi.nlm.nih.gov/pubmed/10612834?tool=bestpractice.com
[7]Kim YM, Choi JH, Lee BH, et al. Predominance of the c.648G > T G6PC gene mutation and late complications in Korean patients with glycogen storage disease type Ia. Orphanet J Rare Dis. 2020 Feb 11;15(1):45.
https://ojrd.biomedcentral.com/articles/10.1186/s13023-020-1321-0
http://www.ncbi.nlm.nih.gov/pubmed/32046761?tool=bestpractice.com
[8]Lei KJ, Chen YT, Chen H, et al. Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus. Am J Hum Genet. 1995 Oct;57(4):766-71.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1801521
http://www.ncbi.nlm.nih.gov/pubmed/7573034?tool=bestpractice.com
[9]Chou JY, Matern D, Mansfield BC, et al. Type I glycogen storage diseases: disorders of the glucose-6-phosphatase complex. Curr Mol Med. 2002 Mar;2(2):121-43.
https://www.doi.org/10.2174/1566524024605798
http://www.ncbi.nlm.nih.gov/pubmed/11949931?tool=bestpractice.com
A taxa geral de portadores é de cerca de 1 em 150; no entanto, a DDG 1a é mais comum entre pessoas com ascendência judaica asquenaze, na qual cerca de 1 em 70 é portador.[5]Ekstein J, Rubin BY, Anderson SL, et al. Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population. Am J Med Genet A. 2004 Aug 30;129A(2):162-4.
http://www.ncbi.nlm.nih.gov/pubmed/15316959?tool=bestpractice.com
As variantes comuns de SLC37A4 (que codifica o transportador de glicose-6-fosfato, G6PT) incluem p.W118R, p.G339C e c.1042_1043delCT.[10]Beyzaei Z, Geramizadeh B. Molecular diagnosis of glycogen storage disease type I: a review. EXCLI J. 2019 Jan 30:18:30-46.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6449677
http://www.ncbi.nlm.nih.gov/pubmed/30956637?tool=bestpractice.com