Lysosomal Storage Disorders Including Neuronal Ceroid Lipofuscinoses
Metabolic disorders that affect the lysosomal degradation of complex carbohydrates, lipids, and proteins are associated with a wide variety of clinical symptoms. At the severe end of the clinical spectrum, neurological symptoms are common and go along wit
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Lysosomal Storage Disorders Including Neuronal Ceroid Lipofuscinoses Carla Hollak, Matthias Kettwig, Lars Schlotawa, and Robert Steinfeld
Contents
Summary
25.1
Introduction ..................................................................... 400
25.2
Nomenclature................................................................... 401
25.3
Metabolic Pathway .......................................................... 403
25.4
Gaucher Disease, Saposin C Deficiency and Limp2 Deficiency ..................................................... 406
25.5
Fabry Disease................................................................... 407
25.6
Sign and Symptoms......................................................... 408
25.7
Diagnosis and Reference Values..................................... 423
25.8
Diagnostic Flow Charts .................................................. 424
25.9
Diagnostics ....................................................................... 426
25.10
Treatment ......................................................................... 427
25.11
Follow-Up and Monitoring of Gaucher Disease ........... 428
25.12
Follow-Up and Monitoring of Krabbe Disease ............. 430
Metabolic disorders that affect the lysosomal degradation of complex carbohydrates, lipids, and proteins are associated with a wide variety of clinical symptoms. At the severe end of the clinical spectrum, neurological symptoms are common and go along with significant brain pathology. The high abundance of sphingolipids in brain partially explains the major neurodegenerative effect of disturbed sphingolipid breakdown. In fact, sphingolipidoses frequently present with an involvement of the cerebral white matter. Other lysosomal disorders, in particular the neuronal ceroid lipofuscinoses (NCLs), primarily affect the cerebral grey matter. The NCLs share the lysosomal accumulation of autofluorescent storage material (lipofuscin) and often result from the disturbed degradation of hydrophobic proteins. Table 25.1 lists lysosomal storage diseases that are associated with neurodegeneration. At the milder end of the clinical spectrum, variable degrees of organ involvement exist, such as renal and cardiac disease in Fabry disease and hepatosplenomegaly with bone symtoms in Gaucher disease. Neurological involvement is less prominent in these disorders.
References ...................................................................................... 431
C. Hollak Division of Endocrinology and Metabolism, Department of Internal Medicine, F5-170, Academic Medical Center, University of Amsterdam, PO box 22700, 1100 DE Amsterdam, The Netherlands e-mail: [email protected] M. Kettwig • L. Schlotawa Department of Pediatrics, University Medical Center Göttingen, Robert-Koch-Str. 40, 37075 Göttingen, Germany e-mail: [email protected]; [email protected] R. Steinfeld (*) Department of Pediatrics, University of Göttingen, Robert-Koch-Str. 40, 37075 Göttingen, Germany e-mail: [email protected]
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