Von Gierke's Disease results from what type of genetic inheritance?

Von Gierke's Disease, also known as glycogen storage disease type I, is caused by a deficiency in the enzyme glucose-6-phosphatase, which is critical for glycogen metabolism. The inheritance pattern of this disorder is autosomal recessive, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to express the disease. This pattern allows carriers, who possess only one copy of the mutated gene, to remain asymptomatic and still pass on the gene to their offspring.

Autosomal recessive disorders often have a higher incidence in certain populations due to genetic drift or founder effects, where certain alleles become more common in a small population due to limited genetic diversity. In the case of Von Gierke's Disease, the clinical symptoms typically appear in early childhood, which aligns with the nature of autosomal recessive inheritance where the phenotype often manifests when the individual is homozygous for the recessive allele.

Understanding this inheritance pattern is crucial for genetic counseling, as it informs parents about the risks of having an affected child based on family history and carrier status.