Juvenile neurogenic muscle atrophy with lysosomal enzyme deficiencies: new disease or variant of mucopolysaccharidosis?
An 18-year-old boy showed childhood onset of mental retardation, neurogenic muscle atrophy with hyperreflexia, Marfan-like features, multiple epiphyseal dysplasia, increased urinary excretion of dermatan sulfate, and decreased lysosomal enzyme activities in beta-galactosidase, beta-glucuronidase, and N-acetyl-beta-D-glucosaminidase. This case may be a new syndrome, the combination of neurogenic muscle atrophy with lysosomal enzyme deficiencies.
D000293:Adolescent; D003937:Diagnosis, Differential; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis; D007962:Leukocytes / Q000201:enzymology; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis; D009083:Mucopolysaccharidoses / Q000175:diagnosis*; D009113:Muramidase / Q000378:metabolism; D009133:Muscular Atrophy / Q000175:diagnosis*; D012021:Reflex, Abnormal / Q000175:diagnosis; D013577:Syndrome
D009113:Muramidase