Genetic Prevalence
GSD Ia is inherited as an autosomal recessive disease. Heterozygote carriers (parents) are asymptomatic. As for other autosomal recessive diseases, the recurrence risk for each subsequent child of the same parents is 25%. Prenatal diagnosis has been made by fetal liver biopsy at 18–22 weeks of gestation, but no fetal treatment has been proposed. Prenatal diagnosis is possible with fetal DNA obtained by chorionic villus sampling when a fetus is known to be at risk.
GSD Ia has an incidence in the American population of approximately 1 in 50,000 to 100,000 births. None of the glycogenoses are currently detected by standard or extended newborn screening.
Read more about this topic: Glycogen Storage Disease Type I
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