title: Alpha-mannosidosis and mutational analysis in a Turkish patient.
abstract: We present a case of alpha-mannosidosis with its mutational analysis. She was referred to our hospital with the provisional diagnosis of mucolipidosis. She was the first child of second-degree relative parents. She had a coarse face with flat and wide nasal bridge, hepatosplenomegaly, umbilical hernia, lumbar gibbus, motor and mental retardation and deafness. On peripheral blood smear, lymphocytes revealed vacuoles and neutrophils contained some granules resembling Reilly bodies seen in mucopolysaccharidosis (MPS). Based on these findings, the diagnosis of alpha-mannosidosis was suspected. Her urine oligosaccharide chromatography showed an abnormal pattern with a heavy trisaccharide band. Enzyme studies on white cells confirmed a deficiency of alpha-mannosidase activity, which was 2.6 micromol/g/hr. Her DNA analysis showed a S453Y mutation.
authors.affiliation: Section of Pediatric Nutrition and Metabolism, Hacettepe University Faculty of Medicine, Ankara, Turkey.
authors.forename: Akgün
authors.initials: A
authors.lastname: Olmez
authors.forename: Oivind
authors.initials: O
authors.lastname: Nilssen
authors.forename: Turgay
authors.initials: T
authors.lastname: Coşkun
authors.forename: Helle
authors.initials: H
authors.lastname: Klenow
mesh_terms: D002675:Child, Preschool; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D006801:Humans; D008361:Mannosidases / Q000172:deficiency / Q000235:genetics*; D014421:Turkey; D043323:alpha-Mannosidase; D008363:alpha-Mannosidosis / Q000175:diagnosis / Q000201:enzymology* / Q000503:physiopathology
chemical_list: D008361:Mannosidases; D043323:alpha-Mannosidase