background and aims: glucose-6-phosphate dehydrogenase (g6pd) is the first enzyme in the route of pentose phosphate metabolism. this route fulfills an effective role in removing oxidant metabolites. deficiency of this enzyme causes decline in energy regeneration of red blood cells and hemolysis. in this study, application of fluorescence staining method in diagnosing the frequency of g6pd defic...

how to cite this article: ashrafi mr, tavasoli ar, katibeh p, aryani o, vafaee-shahi m. a novel mutation in aspartoacylase gene; canavan disease. iran j child neurol. autumn 2015; 9(4): 54-57. abstract objective canavan disease (cd) is a type of vacuolating leukodystrophy with autosomal recessive inheritance. aspartoacylase deficiency results in decrease of myelin biosynthesis, dysmyelination a...

Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common disease of the hexose monophosphate pathway existing in more than 400 million people worldwide. The aim of this study was to identify neonates with G6PD deficiency following national program for screening and education of affected newborns’ parents started since June 2007 in Mazandaran, a northern Province of Ira...

Introduction: Various factors are involved in the pathogenesis of acne vulgaris. Recently, G6PD deficiency has been proposed in the pathogenesis of acne. G6PD has an important role in the oxidant/antioxidant balance. According to this theory, antioxidants are used in the treatment of acne recently. The aim of this study was to evaluate G6PD deficiency in patient with acne vulgaris. Methods: The...

Mucopolysaccharidosis type I (MPS I) is a rare lysosomal disorder caused by deficiency of alpha-L-iduronidase. Few clinical trials have assessed the effect of enzyme replacement therapy (ERT) for this condition. We conducted an exploratory, open-label, non-randomized, multicenter cohort study of patients with MPS I. Data were collected from questionnaires completed by attending physicians at th...

Mucopolysaccharidosis type I (MPS I) is an autosomal recessive storage disorder that result as a consequence of a deficiency in the lysosomal hydrolase, a-L-iduronidase enzyme encoded by IDUA gene. Over a hundred causative variants in IDUA have been identified, which result in a progressive multi-systemic disease with a broad range of severity and disease progression reported across affected in...

BACKGROUND Mucopolysaccharidosis type I (MPS I) is an autosomal recessive disease due to deficiency of α-L-iduronidase (IDUA), a lysosomal enzyme that degrades glycosaminoglycans (GAG) heparan and dermatan sulfate. To achieve optimal clinical outcomes, early and proper treatment is essential, which requires early diagnosis and phenotype severity prediction. RESULTS To establish a genotype/phe...

N-glycosylation is a major posttranslational modification that endows proteins with various functions. It is established that N-glycans are essential for the correct folding and stability of some enzymes; however, the actual effects of N-glycans on their activities are poorly understood. Here, we show that human α-l-iduronidase (hIDUA), of which a dysfunction causes accumulation of dermatan/hep...

BACKGROUND Mucopolysaccharidosis I (MPS I) is a lysosomal storage disease due to alpha-L-iduronidase (IDUA) deficiency that results in the accumulation of glycosaminoglycans (GAG). Gene therapy can reduce most clinical manifestations, but mice that receive transfer as adults lose expression unless they receive immunosuppression. Increasing liver specificity of transgene expression has reduced i...

Mucopolysaccharidosis I (MPS I), known as Hurler syndrome in the severe form, is a lysosomal storage disease due to alpha-L-iduronidase (IDUA) deficiency. It results in fragmentation of elastin fibers in the aorta and heart valves via mechanisms that are unclear, but may result from the accumulation of the glycosaminoglycans heparan and dermatan sulfate. Elastin fragmentation causes aortic dila...