Mucopolysaccharidosis type I (MPS I) is the most common form of the MPS group of genetic diseases. MPS I results from a deficiency in the lysosomal enzyme α-l-iduronidase, leading to accumulation of undegraded heparan and dermatan sulphate glycosaminoglycan (GAG) chains in patient cells. MPS children suffer from multiple organ failure and die in their teens to early twenties. In particular, MPS...

Mucopolysaccharidosis type I (MPS I) arises from a deficiency in the α-L-iduronidase (IDUA) enzyme. Although the clinical spectrum in MPS I patients is continuous, it was possible to recognize 3 phenotypes reflecting the severity of symptoms, viz., the Hurler, Scheie and Hurler/Scheie syndromes. In this study, 10 unrelated Chinese MPS I families (nine Hurler and one Hurler/Scheie) were investig...

background: glucose-6-phosphate dehydrogenase (g6pd) is an x-linked enzymopathy affecting about 400 million people worldwide. neonatal jaundice, drug induced haemolysis and infection-induced haemolysis may happen in some deficient individuals and lead to considerable mortality. the distribution of g6pd deficiency and the molecular genetics of this enzyme vary widely among different ethnic group...

Background and Aims: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a global problem and the most common cause of jaundice in neonates. Hence, this study was conducted to investigate the prevalence of G6PD deficiency in Jiroft city in southern Kerman. Materials and Methods: This descriptive cross-sectional study was carried out from 2016 to 2019. Blood samples were taken from all patie...

Glucose 6-phoshphate dehydrogenase is X-chromosome linked that expressed in all tissues. This is the first enzyme of pentose phosphate pathway were 5-carbon sugar Ribose and NADPH were synthesized by coupled oxidation /reduction reactions and this enzyme is a highly polymorphic enzyme in humans. G6PD deficiency are shown to be the cause of haemolytic effect of Fava beans and primaquine. It soon...

Nonsense suppression therapy is an approach to treat genetic diseases caused by nonsense mutations. This therapeutic strategy pharmacologically suppresses translation termination at Premature Termination Codons (PTCs) in order to restore expression of functional protein. However, the process of Nonsense-Mediated mRNA Decay (NMD), which reduces the abundance of mRNAs containing PTCs, frequently ...