Question

Phosphoglycerate Kinase (PGK) is an essential enzyme used in glycolysis (see step circled in diagram). Phosphoglycerate Kinase Deficiency (PGKD) is an X-linked genetic condition that can change how the PGK enzyme works. While there are many documented mutations that can lead to PGKD, researchers are investigating two specific cases with two different mutations with slightly different phenotypes.

Answer 1

No, having one functional PGK allele on one X-chromosome would not provide a large enough protein dose to prevent Marie from experiencing PGKD symptoms. She will experience some symptoms of the disease. However, the disorder will not be expressed full-fledged in Marie because PGKD is an X-linked recessive disorder and needs both alleles to be non-functional in females.