Gamuts

Aspartylglucosaminuria

Aspartylglucosaminuria (AGU) is an inherited disease that is characterized by a decline in mental functioning, accompanied by an increase in skin, bone and joint issues. The disease is caused by a defect in an enzyme known as aspartylglucosaminidase. [Source: Wikipedia ]

OrphaNet reference
Aspartylglucosaminuria 
May Cause
Anterior beaked vertebrae in a child
Anterior beaked vertebral body
Cardiac valve thickening
Congenital cardiomyopathy
Congenital generalized osteoporosis
Congenital heart disease
Congenital splenomegaly
Delayed bone age
Microcephaly
Mitral insufficiency
Multiple fractures
Pathologic fracture
Platyspondyly
Thick skull
OrphaNet reference
Aspartylglucosaminuria 
May Cause
Anterior beaked vertebrae in a child
Anterior beaked vertebral body
Cardiac valve thickening
Congenital cardiomyopathy
Congenital generalized osteoporosis
Congenital heart disease
Congenital splenomegaly
Delayed bone age
Microcephaly
Mitral insufficiency
Multiple fractures
Pathologic fracture
Platyspondyly
Thick skull

Copyright © 2025, Charles E. Kahn, Jr., MD, MS
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