Background: Mucopolysaccharidosis type III (MPS III) is the of mucopolysaccharidosis that has fewer systemic signs and symptoms, however, it most severe neurological impairment. There are four types MPS III, determined by mutation in gene responsible for enzyme becomes deficient degrading intracellular glycosaminoglycan, which clinical picture.

INTRODUCTION Mucopolysaccharidosis is a hereditary lysosomal storage disease, which develops due to a deficiency in the enzymes that play a role in the metabolism of glycosaminoglycans (GAG). The incidence of mucopolysaccharidosis is 1/25,000, with autosomal recessive inheritance (except for MPS II). Mucopolysaccharidosis occurs in seven different types, each with a different congenital deficie...

OBJECTIVES To characterize the stomatognathic system and stomatognathic functions in patients with mucopolysaccharidosis. METHODS Cross-sectional and observational study of patients with mucopolysaccharidosis seen at the outpatient clinic at the Medical Genetics Service of Hospital de Clínicas de Porto Alegre. The inclusion criteria were the existence of a biochemical or molecular diagnosis o...

Mucopolysaccharidosis VI is an autosomal recessive lysosomal storage disorder associated with severe disability and premature death. The presence of a mucopolysaccharidosis-like disease in indigenous ethnic groups in Colombia can be inferred from archaeological findings. There are several indigenous patients with mucopolysaccharidosis VI currently receiving enzyme replacement therapy. We discus...

OBJECTIVE Mucopolysaccharidosis types IIIA through IIID (Sanfilippo syndrome) are caused by deficiencies of enzymes involved in the degradation of heparan sulfate. The onset and severity of the disease are highly variable. The purpose of this study was to describe the natural course of mucopolysaccharidosis type IIIA in a large cohort of patients. PATIENTS AND METHODS The natural course of mu...

BACKGROUND Lysosomal storage diseases are characterized by intracellular accumulation of metabolites within lysosomes. Recent evidence suggests that lysosomal storage impairs autophagy resulting in accumulation of polyubiquitinated proteins and dysfunctional mitochondria, ultimately leading to apoptosis. We studied the relationship between lysosome storage and impairment of different intracellu...

how to cite this article: imanzadeh f. gastrointestinal symptoms in lysosmal disease. iran j child neurol autumn 2012; 6:4 (suppl. 1):17-18. pls see pdf.   references: 1. semenza  gl,  pyeritz  re.  respiratory complications of mucopolysaccharide storage disorders. medicine (baltimore) 1988; 67:209. 2.   wraith   je,   scarpa   m,   beck   m,   et   al. mucopolysaccharidosis type ii (hunter syn...

+Pg Resident, *Head of unit, **assistant Professor, Dept. of Medicine, grant Medical College and sir J.J. group of Hospitals, Mumbai. Received: 01.10.2011; Revised: 16.07.2012; Re-revised: 03.12.2012; accepted: 11.01.2013 Abstract Introduction : We present a very rare case of mucopolysaccharidosis type II (Hunter syndrome). which presented as short stature, coarse facies, mild mental retardatio...