Presentation
A complete deficiency of Hyaluronoglucosaminidase 1 (HYAL1) presenting as familial juvenile idiopathic arthritis. J Inherit Metab Dis 2011; 34 (05) 1013-1022. 21 Burlina AP, Sims KB, Politei JM. et al. [thieme-connect.com]
Entire Body System
- Disability
Other symptoms include intellectual developmental delay, leading to intellectual disability. This storage disorder is more common in those of Northern European and Scandinavian descent. [fdna.health]
Treatment
Early diagnosis of peripheral nervous system involvement in Fabry disease and treatment of neuropathic pain: the report of an expert panel. BMC Neurol 2011; 11: 61. 22 Linhart A, Palecek T, Bultas J. et al. [thieme-connect.com]
Effects of cholesterol and simvastatin treatment in patients with Smith-Lemli-Opitz syndrome (SLOS). Haas D, Garbade S, Vohwinkel C, Muschol N, Trefz F, Penzien J, Zschocke J, Hoffmann G, Burgard P J INHERIT METAB DIS. 2007;30(3):375-387. [uke.de]
Prognosis
Therefore, the LSDs have a broad clinical spectrum with a doubtful prognosis and shortened life span. [thieme-connect.com]
Epidemiology
Epidemiology of lysosomal storage diseases: an overview. In: Mehta A, Beck M, Sunder-Plassmann G. eds. Fabry disease. Perspectives from 5 years of FOS. Oxford: PharmaGenesis™ Ltd; 2006: 9-20. [thieme-connect.com]
Pathophysiology
The main pathophysiological mechanism is the deficiency of the enzyme α-galactosidase A. As a result, an accumulation of the substrate globotriaosylceramide occurs in tissues of affected patients. [ncbi.nlm.nih.gov]
Cellular pathophysiology of lysosomal storage diseases. In: Mehta A, Beck M, Sunder-Plassmann G. eds. Fabry disease. Perspectives from 5 years of FOS. Oxford: PharmaGenesis TM Ltd; 2006: 33-43. 8 Lachmann RH. [thieme-connect.com]