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β‐Mannosidase deficiency in a female infant with epileptic encephalopathy
Author(s) -
Cooper A.,
Wraith J. E.,
Savage W. J.,
Thornley M.,
Noronha M. J.
Publication year - 1991
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01804383
Subject(s) - medicine , pediatrics , encephalopathy , epilepsy , human genetics , metabolic disease , endocrinology , biology , psychiatry , genetics , gene
Summary We report a female infant with an isolated deficiency of β ‐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. β ‐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.