Sections View Full Chapter Figures Tables Videos Annotate Full Chapter Figures Tables Videos Supplementary Content +++ Key Features ++ Lysosomal storage disorders may present clinically with multisystem involvement including hepatosplenomegaly, cardiac disease, and skeletal features, with or without neurologic involvement. Brain imaging, skeletal survey, and urinary mucopolysaccharide or oligosaccharide screen may be helpful initial screening studies; most diagnoses are made by enzyme assay. Most are inherited as autosomal recessive traits, and all can be diagnosed in utero +++ Clinical Findings ++ Deficiency of a lysosomal enzyme causes its substrate to accumulate in the lysosomes, resulting in a characteristic clinical picture These storage disorders are classified as mucopolysaccharidoses, lipidoses, or mucolipidoses, depending on the nature of the stored material Two additional disorders, cystinosis and Salla disease, are caused by defects in lysosomal proteins that normally transport material from the lysosome to the cytoplasm See Table 36–3 +++ Diagnosis ++ The diagnosis of mucopolysaccharidosis is suggested by certain clinical and radiologic findings (dysostosis multiplex, which includes enlarged sella turcica, scaphocephaly, broad ribs, hook-shaped vertebrae [L1 and L2 most affected], and prominent pointing of the metacarpals and broad phalanges) Urine screening tests can detect increased mucopolysaccharides and further identify which specific mucopolysaccharides are present Diagnosis must be confirmed by enzyme assays of leukocytes or cultured fibroblasts Molecular analysis is also available for most conditions +++ Treatment ++ Most conditions cannot be treated effectively Hematopoietic stem cell transplantation can greatly improve the course of some lysosomal diseases and is first-line treatment in some, such as infantile Hurler syndrome Several disorders are treated with infusions of recombinant modified enzyme Your MyAccess profile is currently affiliated with '[InstitutionA]' and is in the process of switching affiliations to '[InstitutionB]'. Please click ‘Continue’ to continue the affiliation switch, otherwise click ‘Cancel’ to cancel signing in. Get Free Access Through Your Institution Learn how to see if your library subscribes to McGraw Hill Medical products. Subscribe: Institutional or Individual Sign In Username Error: Please enter User Name Password Error: Please enter Password Forgot Username? Forgot Password? Sign in via OpenAthens Sign in via Shibboleth