eliglustat-tartrate and Peripheral-Nervous-System-Diseases

Fabry disease is an X-linked hereditary lysosomal storage disorder with deficiency of the enzyme α-galactosidase A and lysosomal deposits of the glycosphingolipid globotriaosylceramid-3 (Gb-3). Males are predominantly affected by this multisystem disorder; however, females may develop any grade of disease severity. Cardiac, renal, and cerebral involvement may be life limiting-the latter due to stroke in young age. The peripheral nervous system is affected in terms of small fiber neuropathy with characteristic heat-induced acral pain. Pain is the most frequent first symptom of Fabry disease, but is often misjudged and undertreated. Enzyme replacement therapy is available as a treatment option. Fabry-associated pain is treated following the principles of analgesic treatment in neuropathic pain conditions, but some special features need to be considered and will be discussed.

Topics: Adult; alpha-Galactosidase; Analgesics; Child; Child, Preschool; Enzyme Replacement Therapy; Fabry Disease; Female; Genetic Counseling; Humans; Infant; Isoenzymes; Male; Neuralgia; Pain Measurement; Peripheral Nervous System Diseases

Topics: alpha-Galactosidase; Arginine; Child; Coenzymes; Glucosylceramidase; Heredodegenerative Disorders, Nervous System; Humans; Isoenzymes; Lysosomal Storage Diseases; Mitochondrial Diseases; Molecular Diagnostic Techniques; Myotonic Dystrophy; Peripheral Nervous System Diseases; Peroxisomal Disorders; Trinucleotide Repeats; Ubiquinone; Vitamin E

Topics: Adolescent; Adult; alpha-Galactosidase; Fabry Disease; Female; Humans; Isoenzymes; Male; Middle Aged; Peripheral Nervous System Diseases; Somatosensory Disorders