title: beta-mannosidase deficiency in a female infant with epileptic encephalopathy.
abstract: We report a female infant with an isolated deficiency of beta-mannosidase activity. At nine months of age dysmorphism was absent except for brachecephaly. There was moderate developmental delay and a startle response to sound. At 12 months there was a sudden onset of tonic-clonic seizures which were unresponsive to drug therapy, requiring paralysis and mechanical ventilation for control. The child died suddenly aged 15 months. beta-mannosidase activity was markedly reduced in white cells and cultured skin fibroblasts whilst other lysosomal enzymes were normal. The disaccharide ManGlcNAc was excreted in urine but urinary mucopolysaccharides were normal.
authors.affiliation: Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, Pendlebury, UK.
authors.forename: A
authors.initials: A
authors.lastname: Cooper
authors.forename: J E
authors.initials: JE
authors.lastname: Wraith
authors.forename: W J
authors.initials: WJ
authors.lastname: Savage
authors.forename: M
authors.initials: M
authors.lastname: Thornley
authors.forename: M J
authors.initials: MJ
authors.lastname: Noronha
mesh_terms: D000015:Abnormalities, Multiple / Q000201:enzymology; D001927:Brain Diseases / Q000201:enzymology* / Q000235:genetics; D002855:Chromatography, Thin Layer; D004187:Disaccharides / Q000652:urine; D004827:Epilepsy / Q000201:enzymology / Q000235:genetics*; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D007223:Infant; D007962:Leukocytes / Q000201:enzymology; D008361:Mannosidases / Q000172:deficiency*; D009844:Oligosaccharides / Q000652:urine; D044902:beta-Mannosidase
chemical_list: D004187:Disaccharides; D009844:Oligosaccharides; D008361:Mannosidases; D044902:beta-Mannosidase