We describe two cases of Fabry disease in non-blood-related Japanese men, manifesting recurrent stroke even after the start of enzyme replacement therapy. Both exhibited chronic inflammation and ocular involvement with elevated levels of serum C reactive protein prior to the onset of stroke. We, therefore, suggest the association among persistent inflammation, ocular involvement and recurrent s...

Exocrine pancreatic insuffiency is loss of ability to properly digest food due to inadequate pancreatic enzyme activity. The etiology of exocrine pancreatic insuffiency, in humans, is mostly chronic pancreatitis or diseases affecting pancreas such as cytsic fibrosis, Shwachman-Diamond syndrome. It may also occur as a complication of gastric or pancreatic surgical procedures due to decrease of e...

Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is a lysosomal storage disorder caused by deficiency of N-acetylgalactosamine-6-sulfatase (GALNS), an enzyme that degrades keratan sulfate (KS). Currently no therapy for MPS IVA is available. We produced recombinant human (rh)GALNS as a potential enzyme replacement therapy for MPS IVA. Chinese hamster ovary cells stably overexpressing GALN...

In the last years, much progress has been achieved in the field of lysosomal storage disorders. In the past, no specific treatment was available for the affected patients; management mainly consisted of supportive care and treatment of complications. As orphan drug regulations, however, encouraged development of drugs for these disorders by granting marketing exclusivity for 10 years and other ...

Nephrotic syndrome in patients with Gaucher disease is rare; most of the few reported cases have had a well-defined glomerulopathy often with Gaucher cells in the glomeruli. We report the case of a 54-year-old woman with Gaucher disease, who had splenectomy at age 25, preeclampsia with renal biopsy disclosing only endotheliosis at age 32, and improvement of proteinuria and reappearance of heavy...

Gaucher disease is a sphingolipid storage disorder caused by a deficiency of the lysosomal enzyme glucocerebrosidase (GC) and the consequent deposition of glucocerebrosides into the cells of the macrophagic system. Among the three types of clinical disease, type 1 leads to hepatosplenomegaly, hypersplenism and skeletal abnormalities including bone pain, osteopenia and fractures. Two pediatric f...

CASE PRESENTATIONS Patient 1. A 50-year-old man with end-stage renal disease (ESRD) possibly secondary to Fabry disease commenced chronic ambulatory peritoneal dialysis (CAPD) 19 months ago. In childhood he presented with acroparesthesias and pain crises with fever, which were considered to be of psychosomatic origin. Remission of the symptoms occurred when he was 15 years old, but he continued...

CONTEXT Fabry disease is a metabolic disorder without a specific treatment, caused by a deficiency of the lysosomal enzyme alpha-galactosidase A (alpha-gal A). Most patients experience debilitating neuropathic pain and premature mortality because of renal failure, cardiovascular disease, or cerebrovascular disease. OBJECTIVE To evaluate the safety and efficacy of intravenous alpha-gal A for F...