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Clinical and biochemical analysis of two families with type I and type II mannosidosis.
Bennet, J K; Dembure, P P; Elsas, L J.
Afiliação
  • Bennet JK; Department of Pediatrics, Emory University School of Medicine, Atlanta, Georgia 30322, USA.
Am J Med Genet ; 55(1): 21-6, 1995 Jan 02.
Article em En | MEDLINE | ID: mdl-7702090
We report on two unrelated patients with different presentations of mannosidosis. One patient was affected in early childhood with a severe phenotype characteristic of type I mannosidosis. The other was diagnosed with type II mannosidosis only after the onset of progressive neurologic deterioration in late adulthood. Both were detected by non-invasive urinary screening of oligosaccharides. Lymphoblasts transformed from both patients' blood cells had markedly reduced lysosomal alpha-mannosidase activity. Kinetic analyses showed that alpha-mannosidase from the type I patient had a 400-fold reduction in affinity while that from the type II patient was reduced 40-fold. Lymphoblasts from all 4 parents had reduced alpha-mannosidase activity, but there were overlapping activities among these type I and type II obligate heterozygotes. We conclude that screening urinary oligosaccharides will detect mannosidosis over a wide range of phenotypes, that lymphoblasts transformed from affected heterozygotes have decreased enzymatic activity, and that the severity of clinical expression is related to the degree of enzyme impairment.
Assuntos
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Bases de dados: MEDLINE Assunto principal: Manosidases / Alfa-Manosidose Limite: Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Am J Med Genet Ano de publicação: 1995 Tipo de documento: Article País de afiliação: Estados Unidos
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Bases de dados: MEDLINE Assunto principal: Manosidases / Alfa-Manosidose Limite: Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Am J Med Genet Ano de publicação: 1995 Tipo de documento: Article País de afiliação: Estados Unidos