Aspartylglucosaminuria

Summarized by Plex Health
Last Updated: 02 May 2022

Aspartylglucosaminuria is a problem that mostly influences psychological working and movement. Babies with aspartylglucosaminuria show up healthy and balanced at birth, and growth is normally normal throughout early childhood. Around the age of 2 or 3, affected children usually begin to have postponed speech, mild intellectual disability, and troubles collaborating motions. Intellectual special needs and movement issues intensify in adolescence. Lots of people with this disorder lose much of the speech they have found out, and affected adults usually have just a few words in their vocabulary. Adults with aspartylglucosaminuria commonly have emotional disorders and might develop seizures. People with aspartylglucosaminuria may have bones that come to be considerably weak and susceptible to fracture, an abnormally large range of joint movement, and loose skin. Children with this problem may be tall for their age, yet absence of a growth spurt in puberty usually causes adults to be short with a small head size. Individuals with aspartylglucosaminuria usually endure into mid-adulthood.

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