Diagnostic measures can include the following. Before birth: * Abnormally low concentrations of UDP-N-acetylglucosamine-1-phosphotransferase enzyme activity in amniotic fluid<unk> s or chorionic villi In infants: * Elevated plasma lysosomal enzyme concentrations * Decreased concentration of lysosomal enzymes in cultured fibroblasts and increased in the surrounding medium * Presence of inclusion bodies in peripheral blood lymphocytes * Low concentrations of UDP-N-acetylglucosamine-1-phosphotransferase enzyme activity as measured in white blood<unk> s
I-cell disease
Anti-IgLON5 disease
Hyper IgM syndrome
CD25 deficiency
Hyper-IgM syndrome type 1
Hyper-IgM syndrome type 2
Hyper-IgM syndrome type 4
Hyper-IgM syndrome type 5