title: Late-onset acid maltase deficiency in a Chinese girl.
abstract: Late-onset acid maltase deficiency is a rare disorder. We describe a nineteen year old Chinese girl who presented with diarrhoea, limb-girdle weakness and respiratory failure requiring mechanical ventilation. Electromyography showed polyphasic potentials and myotonic discharges. Muscle biopsy revealed features characteristic of acid maltase deficiency. Assay of acid alpha-glucosidase in cultured skin fibroblasts confirmed the diagnosis. Supportive treatment with nocturnal intermittent positive pressure ventilation via a nasal mask and dietary supplementation with branched-chain aminoacids proved effective in this patient. The cause of diarrhoea remained uncertain. This is the first documented case of acid maltase deficiency in Chinese adult.
authors.affiliation: Department of Medicine, Chinese University of Hong Kong, Prince of Wales Hospital, Shatin.
authors.forename: K S
authors.initials: KS
authors.lastname: Wong
authors.forename: C
authors.initials: C
authors.lastname: Lai
authors.forename: H K
authors.initials: HK
authors.lastname: Ng
mesh_terms: D000293:Adolescent; D001706:Biopsy; D003937:Diagnosis, Differential; D005260:Female; D005087:Glucan 1,4-alpha-Glucosidase / Q000172:deficiency*; D006009:Glycogen Storage Disease Type II / Q000150:complications / Q000175:diagnosis* / Q000201:enzymology; D006801:Humans; D009132:Muscles / Q000473:pathology / Q000648:ultrastructure; D000520:alpha-Glucosidases
chemical_list: D000520:alpha-Glucosidases; D005087:Glucan 1,4-alpha-Glucosidase