نتایج جستجو برای: iduronidase enzyme deficiency
تعداد نتایج: 368943 فیلتر نتایج به سال:
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a frequent X-chromosome-linked enzyme abnormality. G6PD is the first key enzyme in the pentose phosphate metabolic pathway and is involved in the generation of NADPH, which is indispensable for biosynthesis of reduced glutathione (GSH). GSH prevents hemoglobin denaturation, preserves the integrity of red blood cell (RBC) membrane sulfhy...
Enzyme replacement therapy for lysosomal storage disorders depends on efficient uptake of recombinant enzyme into the tissues of patients. This uptake is mediated by oligosaccharide receptors including the cation-independent mannose 6-phosphate receptor and the mannose receptor. We have sought to exploit alternative receptor systems that are independent of glycosylation but allow for efficient ...
Mucopolysaccharidosis type I (MPSI) is a rare autosomal recessive disorder caused by mutations in the gene encoding the lysosomal enzyme α-l-iduronidase (IDUA), which is instrumental in the hydrolysis of the glycosaminoglycans, dermatan and heparan sulfate. The accumulation of unhydrolyzed glycosaminoglycans leads to pathogenesis in multiple tissue types, especially those of skeletal, nervous, ...
Background: Glucose-6 phosphate dehydrogenase (G6PD) deficiency is the most common inherited enzyme deficiency of red blood cells involving the enzyme pathway of hexose monophosphate. This study was conducted to examine the effect of vitamin E and folic acid on the improvement of acute hemolysis caused by the G6PD deficiency in patients referred to 17 Shahrivar Hospital, Rasht. Materials and M...
UNLABELLED Mucopolysaccharidosis type I (MPS I) was a group of rare autosomal recessive disorder caused by the deficiency of the lysosomal enzyme, alpha -L -iduronidase, and the resulting accumulation of undergraded dematan sulfate and heparan sulfate. MPS I patients have a wide range of clinical presentations, that makes it difficult to predict patient phenotype which is needed for genetic cou...
Methylmalonic acidemia (MMA) is usually caused by a deficiency of the enzyme methylmalonyl-CoA mutase (MCM), a defect in the transport or synthesis of its cofactor, adenosyl-cobalamin (cblA, cblB, cblC, cblF, cblD, and cblX), or deficiency of the enzyme methylmalonyl-CoA epimerase. A comprehensive diagnostic approach involves investigations of metabolites with tandem mass spectrometry, organic ...
Anderson-Fabry which is also known as Fabry disease is an X-linked recessive enzyme deficiency disorder. Its clinical manifestations are caused by storage of sphingolipids in the lysosomes of the endothelial, perithelial, and smooth muscle cells, which is due to alpha galactosidase A enzyme deficiency. Its hallmark dermatological manifestation is diffuse angiokeratomas known as ...
Sir while we have no issues with the data presented in the Letter to the Editor [1], we are compelled to give an alternative conclusion. The majority of newborn labs set their own screen cutoffs, and Illinois uses much higher cutoffs than Missouri. It is only meaningful to compare the number of below-cutoff enzyme activity samples with the use of equivalent cutoffs [2–4]. For example, for mucop...
Mucopolysaccharidosis type I (MPS I), is an autosomal recessive lysosomal storage disorder caused by a deficiency in the α-L-iduronidase enzyme, resulting in decreased enzymatic activity and accumulation of glycosaminoglycans. The disorder phenotypically manifests with increased urine glycosaminoglycan excretion, facial dysmorphology, neuropathology, cardiac manifestations, and bone deformities...
Effects of Enzyme Replacement Therapy Started Late in a Murine Model of Mucopolysaccharidosis Type I
Mucopolysaccharidosis type I (MPS I) is a progressive disorder caused by deficiency of α-L-iduronidase (IDUA), which leads to storage of heparan and dermatan sulphate. It is suggested that early enzyme replacement therapy (ERT) leads to better outcomes, although many patients are diagnosed late and don't receive immediate treatment. This study aims to evaluate the effects of late onset ERT in a...
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