title: Effect of growth hormone treatment on hypoglycemia in a patient with both hepatic glycogen synthase and isolated growth hormone deficiencies.
abstract: A 7 year-old boy presenting with growth retardation, fasting hypoglycemia and ketoacidosis was diagnosed as having both idiopathic growth hormone (GH) deficiency and hepatic glycogen synthase (GS) deficiency caused by a homozygous mutation in exon 5 of the liver glycogen synthase gene (GYS-2). After four years of treatment with recombinant human GH, height increased from -4.9 SDS to -2.05 SDS which is near his target height of -1.6 SDS. The GH treatment, however, did not prevent the fasting hypoglycemia. Blood glucose levels were only normalized after avoiding fasting intervals of more than five hours and the frequent feeding of protein-rich meals according to the guidelines for treatment of hepatic GS deficiency.
authors.affiliation: Gottfried v. Preyer'sches Kinderspital, Vienna, Austria. peter.bluemel@pre.magwien.gv.at
authors.forename: P
authors.initials: P
authors.lastname: Blümel
authors.forename: P E
authors.initials: PE
authors.lastname: Mullis
mesh_terms: D000365:Age Determination by Skeleton; D001786:Blood Glucose / Q000032:analysis; D001827:Body Height; D002675:Child, Preschool; D005215:Fasting; D005502:Food; D005951:Glucose Tolerance Test; D006006:Glycogen Synthase / Q000172:deficiency*; D006130:Growth Disorders / Q000188:drug therapy / Q000209:etiology; D006720:Homozygote; D019382:Human Growth Hormone / Q000172:deficiency* / Q000627:therapeutic use*; D006801:Humans; D007003:Hypoglycemia / Q000188:drug therapy*; D018972:Insulin-Like Growth Factor Binding Protein 3 / Q000097:blood; D007334:Insulin-Like Growth Factor I / Q000032:analysis; D008099:Liver / Q000201:enzymology*; D008297:Male; D009154:Mutation
chemical_list: D001786:Blood Glucose; D018972:Insulin-Like Growth Factor Binding Protein 3; D019382:Human Growth Hormone; D007334:Insulin-Like Growth Factor I; D006006:Glycogen Synthase