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The Hurler and Hunter syndromes
The American Journal of Medicine, 1969Abstract Since the demonstration that acid mucopolysaccharides accumulate in tissue and urines of patients with the Hurler and Hunter syndromes, other mucopolysaccharidoses have been described. Some lipid storage diseases have also been shown to have an increase in acid mucopolysaccharide with the lipid material stored.
A, Dorfman, R, Matalon
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Tracheobronchomalacia in Hunter's syndrome
International Journal of Pediatric Otorhinolaryngology, 1993Hunter's syndrome is one of a group of heritable metabolic disorders caused by decreased activity of one or more of the lysosomal enzymes responsible for mucopolysaccharide catabolism, resulting in excessive deposition of mucopolysaccharides in skeletal and soft tissues.
J M, Morehead, D S, Parsons
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Bladder Obstruction in Hunter's Syndrome
Scandinavian Journal of Urology and Nephrology, 1999We report a case of bladder obstruction in a patient with Hunter's syndrome, presenting with acute painful symptomatology, due to the impossibility of voiding, which was diagnosed with ultrasonography and cystometrography. Intermittent catheterization with intravesical oxybutynin chloride lead to successful functional resolution of the obstruction.
Rigante D. +4 more
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GENETIC COUNSELLING FOR HUNTER SYNDROME
The Lancet, 1976no abstract ...
Epstein, C.j. +3 more
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Cerebral infarction in Hunter syndrome
Journal of Clinical Neuroscience, 2006Hunter syndrome, or mucopolysaccharidosis type II, is an X-linked recessive disorder resulting from iduronate sulfatase deficiency. Typical manifestations include short stature, mental retardation, hydrocephalus, macroglossia and cardiac valvulopathy.
John, Neely +4 more
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Multidisciplinary Management of Hunter Syndrome
Pediatrics, 2009Hunter syndrome is a rare, X-linked disorder caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase. In the absence of sufficient enzyme activity, glycosaminoglycans accumulate in the lysosomes of many tissues and organs and contribute to the multisystem, progressive pathologies seen in Hunter syndrome.
MUENZER J +20 more
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Psychosocial problems in Hunter's syndrome
Child: Care, Health and Development, 1981Summary During a national study of Hunter's syndrome, visits were made to 33 sets of parents who had had a total of 44 affected sons, 27 with the severe, and 17 with the mild, form of the disease. Information about the behavioural pattern in a further 22 boys was obtained from hospital records.
I D, Young, P S, Harper
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Prenatal diagnosis of hunter syndrome
Prenatal Diagnosis, 1984AbstractSixteen pregnancies at risk for Hunter syndrome have been monitored by amniocentesis. Iduronate 2‐sulphate sulphatase levels were measured in amniotic fluid, cultured amniotic fluid cells and cord blood. Thirteen of the pregnancies resulted in normal livebirths, two are continuing and one affected pregnancy was terminated. Reduced enzyme levels
I M, Archer, H M, Kingston, P S, Harper
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1996
Hunter’s syndrome is an example of a defect in the metabolism of the complex sugars — the mucopolysaccharides. There are a number of syndromes in this group, and in each there is lack of a specific enzyme which controls the metabolism of these nutrients (Other syndromes include Hurler’s syndrome, Morquio’s syndrome and San Filippo syndrome.) Around one
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Hunter’s syndrome is an example of a defect in the metabolism of the complex sugars — the mucopolysaccharides. There are a number of syndromes in this group, and in each there is lack of a specific enzyme which controls the metabolism of these nutrients (Other syndromes include Hurler’s syndrome, Morquio’s syndrome and San Filippo syndrome.) Around one
openaire +1 more source