Acquired Autistic Behaviors in Children with Mucopolysaccharidosis Type IIIA
نویسندگان
چکیده
منابع مشابه
Prediction of phenotypic severity in mucopolysaccharidosis type IIIA
OBJECTIVE Mucopolysaccharidosis IIIA or Sanfilippo disease type A is a progressive neurodegenerative disorder presenting in early childhood, caused by an inherited deficiency of the lysosomal hydrolase sulfamidase. New missense mutations, for which genotype-phenotype correlations are currently unknown, are frequently reported, hampering early prediction of phenotypic severity and efficacy asses...
متن کاملDistribution of Heparan Sulfate Oligosaccharides in Murine Mucopolysaccharidosis Type IIIA
Heparan sulfate (HS) catabolism begins with endo-degradation of the polysaccharide to smaller HS oligosaccharides, followed by the sequential action of exo-enzymes to reduce these oligosaccharides to monosaccharides and inorganic sulfate. In mucopolysaccharidosis type IIIA (MPS IIIA) the exo-enzyme, N-sulfoglucosamine sulfohydrolase, is deficient resulting in an inability to hydrolyze non-reduc...
متن کاملLentiviral-mediated gene correction of mucopolysaccharidosis type IIIA
BACKGROUND Mucopolysaccharidosis type IIIA (MPS IIIA) is the most common of the mucopolysaccharidoses. The disease is caused by a deficiency of the lysosomal enzyme sulphamidase and results in the storage of the glycosaminoglycan (GAG), heparan sulphate. MPS IIIA is characterised by widespread storage and urinary excretion of heparan sulphate, and a progressive and eventually profound neurologi...
متن کاملFrom hypertransaminasemia to mucopolysaccharidosis IIIA
UNLABELLED ᅟ: Mucopolysaccharidosis type III (MPS III; Sanfilippo syndrome) is a metabolic disorder characterized by the deficiency of a lysosomal enzyme catalyzing the catabolic pathway of heparan sulphate. MPS III presents with progressive mental deterioration, speech delay and behavioural problems with subtle somatic features, which can often lead to misdiagnosis with idiopathic developmenta...
متن کاملSpinal cord compression in young children with type VI mucopolysaccharidosis.
Spinal cord compression (SCC) is a known complication of mucopolysaccharidosis type VI (MPS VI) secondary to atlantoaxial subluxation, craniovertebral stenosis, posterior longitudinal ligament hypertrophy, or dural thickening. SCC is expected to occur in the natural history of the disease, regardless of enzyme replacement therapy (ERT), as intravenous enzyme does not cross the blood-brain barri...
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ژورنال
عنوان ژورنال: The Journal of Pediatrics
سال: 2014
ISSN: 0022-3476
DOI: 10.1016/j.jpeds.2014.01.007