A severe lysosomal storage disorder caused by deficiency of N-acetylglucosamine-1-phosphotransferase. Affects the targeting of enzymes to lysosomes. Rapidly progressive with severe skeletal abnormalities and organ involvement.

• 1Genetic testing
• 2Clinical evaluation
• 3Family history assessment
• 4Specialized laboratory tests
• 5Imaging studies
• 6Biopsy (if applicable)

Rapidly progressive in infancy with severe developmental delay, skeletal abnormalities, and organomegaly. Most patients do not survive past early childhood (3-7 years) without treatment. Hematopoietic stem cell transplant in early infancy may slow progression and extend survival. Enzyme replacement therapy is in development. Supportive care focuses on managing complications. Prenatal diagnosis available for at-risk pregnancies.

• Genetic counseling
• Carrier screening
• Prenatal diagnosis
• Preimplantation genetic diagnosis
• Family planning