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短颈、腹泻、语言发育迟缓、智力减低、异常矮小、面颊明显内陷、反复上呼吸道感染
Aspartylglucosaminuria is an autosomal-recessive lysosomal aspartylglucosaminidase deficiency causing glycoprotein accumulation. Childhood normal initially, then progressive intellectual disability, coarse facies, recurrent infections, joint laxity, and hepatosplenomegaly; most common in Finland. Treatment is supportive; enzyme-replacement/HSCT under study.
Progressive intellectual disability; coarse facies; recurrent infection; joint laxity; hepatosplenomegaly
Aspartylglucosaminidase deficiency causes aspartylglucosamine accumulation in lysosomes, causing progressive neuronal/connective-tissue damage.
Supportive; manage infections; special education; HSCT trials
Genetic counseling; carrier screening (Finnish population).
It is recommended to visit the Pediatrics department; an appointment can be booked on this platform before the visit.
Warm reminder: The above information is for health science reference only and cannot replace professional medical diagnosis. If you have related symptoms, please seek medical attention at a regular hospital promptly.
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