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Morquio-B syndrome (MPS-IV B) associated with beta-galactosidase deficiency in two siblings.
Sheth, Jayesh J; Sheth, Frenny J; Bhattacharya, Raktima.
Afiliación
  • Sheth JJ; Foundation for Research in Genetics & Endocrinology (FRIGE), Genetics Centre, 20/1, Bimanagar, Satellite Road, Ahmedabad-380 015, India. jsheth@vsnl.com
Indian J Pediatr ; 69(1): 109-11, 2002 Jan.
Article en En | MEDLINE | ID: mdl-11876111
In the present article we describe two cases with Morquio-B syndrome characterized by beta-galactosidase deficiency in a Muslim family. They were found to have skeletal dysplasia, short stature and short trunk dwarfism with undetectable level of beta-galactosidase in leucocytes. Probands' sister who had no clinical signs of mucopolysaccharidosis was investigated and found to have normal levels of the enzyme. Mother was found to have a deficient activity of beta-galactosidase and father was not available for the study. Since mother was pregnant, prenatal study from chorionic cells was carried out to investigate beta-galactosidase activity in the chorionic villus. An intermediate level of beta-galactosidase activity was found in the chorionic villus cells suggesting a carrier status. The diversity and rarity of the study makes it worth presenting.
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Bases de datos: MEDLINE Asunto principal: Beta-Galactosidasa / Mucopolisacaridosis Tipo de estudio: Risk_factors_studies Límite: Child / Child, preschool / Humans / Male Idioma: En Revista: Indian J Pediatr Año: 2002 Tipo del documento: Article País de afiliación: India
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Bases de datos: MEDLINE Asunto principal: Beta-Galactosidasa / Mucopolisacaridosis Tipo de estudio: Risk_factors_studies Límite: Child / Child, preschool / Humans / Male Idioma: En Revista: Indian J Pediatr Año: 2002 Tipo del documento: Article País de afiliación: India