Diagnostic Difficulties of Mucopolysaccharidosis Type I Mild Forms: Clinical Cases
نویسندگان
چکیده
منابع مشابه
Clinical features of Mexican patients with Mucopolysaccharidosis type I.
Mucopolysaccharidosis type I (MPS-I) is an autosomal recessive lysosomal storage disorder caused by a deficiency or absence of α--iduronidase, which is involved in the catabolism of glycosaminoglycans (GAGs). This deficiency leads to the accumulation of GAGs in several organs. Given the wide spectrum of the disease, MPS-I has historically been classified into 3 clinical subtypes - severe (Hurle...
متن کاملHurler syndrome (Mucopolysaccharidosis type I).
To cite: Grech R, Galvin L, O’Hare A, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2012008148 DESCRIPTION Hurler syndrome is a rare lysosomal storage disorder with a prevalence of 1 in 100 000. It is caused by a defective IDUA gene which codes for α-L iduronidase and has an autosomal recessive inheritance. Enzyme deficiency results in accumulation of der...
متن کاملOpen issues in Mucopolysaccharidosis type I-Hurler
Mucopolysaccharidosis I-Hurler (MPS I-H) is the most severe form of a metabolic genetic disease caused by mutations of IDUA gene encoding the lysosomal α-L-iduronidase enzyme. MPS I-H is a rare, life-threatening disease, evolving in multisystem morbidity including progressive neurological disease, upper airway obstruction, skeletal deformity and cardiomyopathy. Allogeneic hematopoietic stem cel...
متن کاملLaronidase for treating mucopolysaccharidosis type I.
Mucopolysaccharidoses are a group of inherited metabolic diseases caused by the absence or deficiency of the lysosomal enzymes that are needed for breaking down glycosaminoglycans (GAGs). Over time, GAGs collect in cells, blood and connective tissues, and increased amounts are excreted in the urine. The result is permanent and includes progressive cell damage that affects the individual's appea...
متن کاملDiagnostic difficulties in mild haemophilia and Christmas disease.
Two cases of haemorrhagic diathesis are described, where the laboratory diagnosis was confused owing to previous blood transfusions. Without the help of investigating the relatives, the nephew of Case 1, the haemophiliac, and the uncle of Case 2, with Christmas disease, there would have been considerable delay in reaching the diagnosis and so instituting the correct treatment.
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ژورنال
عنوان ژورنال: Current Pediatrics
سال: 2020
ISSN: 1682-5535,1682-5527
DOI: 10.15690/vsp.v19i2.2106