Direct enzyme replacement therapy (ERT) has been introduced as a means to treat a number of rare, complex genetic conditions associated with lysosomal dysfunction. Gaucher disease was the first for which this therapy was applied and remains the prototypical example. Although ERT using recombinant lysosomal enzymes has been shown to be effective in altering the clinical course of Gaucher disease...

Sir, Anderson-Fabry disease is a metabolic lysosomal storage disease caused by a deficiency of the enzyme a-galactosidase A and inherited as an X-linked recessive trait. The progressive accumulation of glycosphingolipids (globotriaosylceramide, GB3) in blood, vessels and cells from several organs and tissues causes significant multi-systemic damage in homozygous males and in carrier females. Fo...

4. Cook AL, Kishnani PS, Carboni MP, Kanter RJ, Chen YT, Ansong AK, et al. Ambulatory electrocardiogram analysis in infants treated with recombinant human acid alpha-glucosidase enzyme replacement therapy for Pompe disease. Genet Med. 2006;8:313–7. 5. Ansong AK, Li JS, Nozik-Grayck E, Ing R, Kravitz RM, Idriss SF, et al. Electrocardiographic response to enzyme replacement therapy for Pompe dise...

BACKGROUND Gaucher disease is one of the most common lipid-storage disorders, affecting approximately 1 in 75,000 births. Enzyme replacement therapy with recombinant glucocerebrosidase is currently considered the first-line treatment choice for patients with symptomatic Gaucher disease type 1. Oral substrate reduction therapy is generally considered a second-line treatment option for adult pati...

With the recognition of the close link between nutritional status and pulmonary function in cystic fibrosis (CF), treatment and prevention of malnutrition have become a major focus in the modern therapeutic approach for patients with CF. Thereby, pancreatic enzyme replacement therapy plays a central role. This article reviews key publications on important aspects of pancreatic enzyme replacemen...

background: vitamin d (vit d) is linked to various conditions including musculoskeletal, metabolic and   cardiopulmonary diseases. however, it is not clear whether correction of vit d deficiency exerts any beneficial effect in patients with pulmonary hypertension. methods: this study was a prospective uncontrolled longitudinal study. patients with pulmonary hypertension and vit d deficiency wer...

adrenal insufficiency is a life-threatening disorder which must be treated with glucocorticoid replacement and needs permanent dose adjustment during patient's different somatic situations. insufficient glucocorticoid doses result in adrenal crisis and must be treated with intravenous hydrocortisone. the patient was known with adrenal insufficiency and was treated optimally with fludrocortisone...

background : postmenopausal hot flash is a common disease amongst women with high prevalence of 75%. hormone replacement therapy (hrt) is a well-known relief of symptoms which has disadvantages such as side effects and contraindication for certain types of hormone related diseases and breast or estrogen related cancers. one of the alternatives is acupuncture which is an east asian and more spec...

A newly diagnosed 5-month-old infant with cystic fibrosis (CF) developed signs and symptoms of increased intracranial pressure (ICP) within days of starting pancreatic enzyme replacement therapy. Symptoms promptly resolved on two occasions after stopping enzyme replacement. At 10 months of age, enzyme replacement was well tolerated.

how to cite this article: taghdiri mm. other experimental therapies in neimann pick diseases. iran j child neurol. 2015 autumn;9:4(suppl.1): 25.   pls see pdf.