Lysosomal storage diseases in adults.
Most lysosomal storage disorders are known as pediatric diseases. In recent years late onset and adult forms of these disorders have been recognized. The adult form of a given lysosomal storage disorder differs from the childhood disease in several respects. Adult disorders are, with some exceptions, less common than the childhood diseases. The clinical picture is not only less severe, but often shows quite different clinical signs and symptoms than the early onset form. Metachromatic leucodystrophy, GM1 and GM2 gangliosidoses, Gaucher disease and aspartylglucosaminuria are presented as examples of lysosomal storage disorders manifesting as adult diseases. The differences of the early and late onset disorders are discussed in the light of recent results of molecular genetics, residual enzyme activity and pseudodeficiency.
Children's Hospital, University of Helsinki, Finland.
J
J
Rapola
D000117:Acetylglucosamine / Q000031:analogs & derivatives / Q000652:urine; D000328:Adult; D017668:Age of Onset; D054880:Aspartylglucosaminuria; D005678:G(M2) Ganglioside / Q000378:metabolism; D005733:Gangliosidoses / Q000235:genetics* / Q000473:pathology; D016537:Gangliosidosis, GM1 / Q000235:genetics; D005776:Gaucher Disease / Q000235:genetics*; D006801:Humans; D007966:Leukodystrophy, Metachromatic / Q000235:genetics* / Q000378:metabolism
D005678:G(M2) Ganglioside; C000009:N-acetylglucosaminylasparagine; D000117:Acetylglucosamine