Once a diagnosis is made, the treatment is based on an individual’s clinical condition and may include standard management for autoimmunity and immunodeficiency. It has been suggested that exogenous nondiabeotgenic sugar supplementations of GlcNAc might be used to increase UDP-GlcNAc and bypass the metabolic defect for treatment. Investigators at the National Institute of Allergy and Infectious Diseases at the US National Institutes of Health currently have clinical protocols to study new approaches to the diagnosis and treatment of this disorder.
PGM3 deficiency
PMM2 deficiency
LRBA deficiency
NGLY1 deficiency
Factor I deficiency
CDKL5 deficiency disorder
Enolase deficiency
Factor X deficiency