DPM3-CDG

DPM3-CDG (also known as congenital disorder of glycosylation type Io or DPM3-congenital disorder of glycosylation) is an extremely rare autosomal recessive metabolic disorder caused by mutations in the DPM3 gene. The DPM3 gene encodes a subunit of the dolichol-phosphate mannose (DPM) synthase complex, which is essential for the synthesis of dolichol-phosphate-mannose, a critical sugar donor required for proper N-glycosylation, O-mannosylation, and GPI-anchor biosynthesis of proteins. Deficiency in this enzyme complex leads to impaired glycosylation of multiple proteins throughout the body. DPM3-CDG has been reported in very few patients worldwide. The clinical presentation described in the literature includes dilated cardiomyopathy, muscular dystrophy with elevated creatine kinase levels, and mild intellectual disability. Stroke-like episodes have also been reported. The disorder primarily affects the muscular and cardiovascular systems, though neurological involvement may also occur. Onset of symptoms has been described in childhood. There is currently no specific curative treatment for DPM3-CDG. Management is supportive and symptom-based, focusing on cardiac monitoring and treatment of cardiomyopathy, physical therapy and rehabilitation for muscular involvement, and neurological support as needed. Given the rarity of this condition, clinical understanding continues to evolve as additional cases are identified and reported in the medical literature.

Common questions about DPM3-CDG