title: [Present-day status of glycogenosis Ib. Report of a new case].
abstract: A four-month-old boy affected by glycogen storage disease type I is presented. The child suffered from hepatomegaly, lactic acidosis, fasting hypoglycemia and failure to thrive. He had repeated infectious and cyclic neutropenia. Immunoglobulin and chemotactic neutrophil motility was impaired. Liver biopsy showed increased amounts of glycogen in hepatic cells as assessed by morphological and biochemical grounds. The activity of glucose-6-phosphatase as well as other glycogenolytic enzymes was normal in the frozen liver. The aforementioned characteristics suggested the diagnosis of glycogen storage disease type Ib. The child was first treated by enteral continuous feeding and later on by frequent meals during the daytime and enteral continuous feeding during the night time, improving the hypoglycemia as well as the other biochemical and metabolic abnormalities.
authors.affiliation: Servicio de Endocrinología Pediátrica, Hospital Infantil La Paz, Madrid.
authors.forename: V
authors.initials: V
authors.lastname: Morena Hinojosas
authors.forename: A
authors.initials: A
authors.lastname: Fullana Montoro
authors.forename: J
authors.initials: J
authors.lastname: Alvarez-Coca González
authors.forename: M
authors.initials: M
authors.lastname: González Pérez-Venero
authors.forename: R
authors.initials: R
authors.lastname: Gracia Bouthelier
authors.forename: A
authors.initials: A
authors.lastname: Peralta Serrano
authors.forename: T
authors.initials: T
authors.lastname: Benlloch Marín
authors.forename: G
authors.initials: G
authors.lastname: Fontán Casariego
mesh_terms: D001706:Biopsy; D002634:Chemotaxis, Leukocyte; D005953:Glycogen Storage Disease Type I / Q000201:enzymology / Q000276:immunology / Q000473:pathology* / Q000503:physiopathology; D006801:Humans; D007136:Immunoglobulins / Q000032:analysis; D007223:Infant; D008099:Liver / Q000201:enzymology / Q000473:pathology*; D008297:Male
chemical_list: D007136:Immunoglobulins
vernacular_title: Estado actual de la glucogenosis Ib. Aportación de un nuevo caso.