hurler syndrome การใช้

• Hunter syndrome is X-linked while Hurler syndrome is autosomal recessive.
• MPS I H or Hurler syndrome is the most severe of the MPS I subtypes.
• A medical example is a heterokaryon composed of nuclei from Hurler syndrome and Hunter syndrome.
• Hurler syndrome is often classified as a lysosomal storage disease, and is clinically related to Hunter Syndrome.
• The symptoms of I-cell disease are similar to but more severe than those of Hurler syndrome.
• Children with Hurler syndrome often die before age 10 from obstructive airway disease, respiratory infections, and cardiac complications.
• Children with Hurler syndrome often die before age 10 from obstructive airway disease, respiratory infections, or cardiac complications.
• Because Hurler syndrome is an autosomal recessive disorder, affected persons have two non-working copies of the IDUA gene.
• Children with Maroteaux Lamy syndrome usually have normal intellectual development but share many of the physical symptoms found in Hurler syndrome.
• Escolar has also studied treatment outcomes in other neurodegenerative diseases and has recommended specific standardized assessment instruments to evaluate outcomes in children with Hurler syndrome.
• The gene is named IDUA because of its iduronidase enzyme protein product ., 52 different mutations in the IDUA gene have been shown to cause Hurler syndrome.
• She also wrote autobiographical works that addressed the death of Frank, her husband who died of cancer, and the story of their son suffering from Hurler syndrome.
• Although no studies have been done to determine the frequency of MPS I in the United States, studies in British Columbia estimate that 1 in 100, 000 babies born has Hurler syndrome.
• One of the first diseases that she hopes to treat with the cells is Hurler syndrome, a rare genetic abnormality that results in the loss of a single critical enzyme in the body and causes skeletal problems and severe mental retardation.
• Though rare, a deficiency of phosphodiesterase which would cleave GlcNAc from the Mannose 6 Phosphate tag will also cause I-Cell . The presence of lipids, glycosaminoglycans ( GAG's ) and carbohydrates in the blood provide for the distinguishing characteristic to separate I-Cell from Hurlers Syndrome, in Hurlers, only glycosaminoglycans would be present.
• Escolar and colleagues report that early treatment with umbilical cord blood transplantation can improve somatic impairment, cognitive function, and motor skills in children with mucopolysaccharidosis type I ( Hurler syndrome ); adaptive behavior and cognitive, language, and motor skills in boys with adrenoleukodystrophy; and hearing, neurodevelopment, and skeletal abnormalities in children with alpha-mannosidosis.
• Thirteen other syndromes may exhibit signs similar to Usher syndrome, including Alport syndrome, Alstrom syndrome, Bardet-Biedl syndrome, Cockayne syndrome, spondyloepiphyseal dysplasia congenita, Flynn-Aird syndrome, Friedreich ataxia, Hurler syndrome ( MPS-1 ), Kearns-Sayre syndrome ( CPEO ), Norrie syndrome, osteopetrosis ( Albers-Schonberg disease ), Refsum's disease ( phytanic acid storage disease ), and Zellweger syndrome ( cerebrohepatorenal syndrome ).
• Although the missing enzyme can be manufactured by drug companies, the enzyme drug alone does not treat the brain, because the enzyme alone does not cross the BBB . ArmaGen has re-engineered the missing lysosomal enzyme as a Trojan horse-enzyme fusion protein that crosses the BBB . The first clinical trials of the new Trojan horse fusion protein technology will treat the brain in lysosomal storage disorders, including Mucopolysaccharidosis ( MPS ) Type I, also called Hurlers syndrome, and MPS Type II, also called Hunter syndrome.