Gaucher's disease type 3 is an autosomal recessive disorder characterized by reduced glucocerebrosidase activity.
Clinically it is intermediate between types 1 and 2, where splenomegaly and bone involvement are the dominant clinical features, and type 2 Gaucher disease, where central nervous system dysfunction, convulsions, and progressive mental deterioration dominate.
Other organs such as the liver, spleen and lymph nodes may be involved.
Type 3 | |
Phenotype | Accounts for 4% of GD cases. Typically infantile-childhood onset; sub-acute and slowly progressive may result in death during the second decade although some have survived to their 4th decade |
Visceral symptoms | Hepatomegaly, splenomegaly and interstitial lung disease |
Hematopoietic symptoms | Anaemia and thrombocytopenia |
Orthopaedic symptoms | Bony pain crisis, osteopenia, aseptic necrosis of femoral head, bony lytic lesions, bony infarctions and pathological fractures |
Neurologic symptoms | Oculomotor apraxia, myoclonic epilepsy, generalized tonic-clonic seizures, and cognitive impairment |
The development of enzyme replacement therapy (ERT) and substrate reduction therapy (SRT) have made GD treatable with the exception of the neurological deterioration associated with types 2 and 3
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