This study evaluates the transfusion of fresh frozen plasma containing the enzyme PAPP-A2 into the a female adult. This female adult has a mutated version of PAPP-A2 that prevents the unbinding of IGF-1 from IGF binding proteins. The investigator's hypothesize that transfusion of plasma with donor PAPP-A2 will lead to the unbinding of IGF-1 from its binding proteins and that they will be able to measure free IGF-1 in the blood of this female adult.
Name: Fresh Frozen PlasmaDescription: Liquid portion of human blood that was centrifuged, separated, and frozen solid within 6 hours of collectionType: Other
PAPP-A2 Enzyme Replacement
Description: Decrease in either total IGF-1 or IGFBP-3 of 20% or greater as a clinically meaningful decrease in levelsMeasure: Decrease in IGF-1 Time: 5 minutes
Single Group Assignment
There is one SNP
Genetic analysis of the participant identified a novel missense mutation in PAPPA2 (Ala1033Val). --- Ala1033Val ---