Highlights & Basics
- Hereditary lysosomal storage disorders are a group of diverse inherited disorders that arise from deficiency of enzymes required for the breakdown of products of intermediary metabolism.
- Diagnosis depends on a high index of suspicion, and is easily made by biochemical test or mutational analysis. Tissue biopsy is rarely required to make the diagnosis.
- Many people present in early childhood with hepatosplenomegaly, neurodevelopmental delay, cardiorespiratory disease, joint contractures, and failure to thrive. Others present later in childhood with pain, organ enlargement, skin rash, sensory organ damage, musculoskeletal abnormalities, muscle weakness, and neurodevelopmental delay.
- Early referral to a specialist center is strongly advised so that patients and families may be assessed by a multidisciplinary team familiar with the disease.
- Significant advances in treatment have occurred in recent years such that the outlook for patients has substantially changed. Specific treatments limited to certain subtypes include enzyme replacement therapy, chaperone therapy, substrate reduction therapy, and stem cell transplantation.
Quick Reference
History & Exam
Key Factors
Other Factors
Diagnostics Tests
Treatment Options
Definition
Epidemiology
Etiology
Pathophysiology
Images
Bone marrow aspirate showing a typical Gaucher cell. This is a macrophage that has ingested cellular material; the undegraded substrate (glucosyl ceramide) accumulates within lysosomes
Skeletal magnetic resonance imaging in type 1 Gaucher disease showing widespread skeletal deposition of substrate with associated necrosis and bony infarction. There is avascular necrosis of the head of the femur (arrow)
Electron microscope image of biopsy of pulmonary epithelial cells in Fabry disease showing the characteristic deposits of substrate in lysosomes, forming "zebra bodies": (A) magnification x8000, (B) magnification x62,500
Cutaneous lesions in Fabry disease: (A) palms, (B) lips, (C) labial mucosa
Cutaneous lesions in Fabry disease: (A) flank, (B) genitals, (C) umbilicus, (D) lower back, (E) toes
Citations
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