title: Glycogen storage disease type III with hypoketosis.
abstract: A rare case of glycogen storage disease type III with unusually absent ketone body production during hypoglycemia is presented. A 10-month-old boy presented with asymptomatic hepatomegaly. GOT/GPT 2555/1160 IU/L, CK 302 IU/L, triglycerides 1223 mg/dL, cholesterol 702 mg/dL and uric acid 7.9 mg/dL. After a 9-hour fast, glucose was 27 mg/dL and adequate lipolysis without ketogenesis was observed (total/free carnitine 34.5/20 micromol/L, free fatty acids 1620 micromol/L and beta-hydroxybutyrate 172 micromol/L). Result of MCT (medium-chain triglycerides) load test: basal hydroxybutyrate 29 micromol/L rose to 5748 micromol/L. Treatment with a fat-restricted diet supplemented with formula containing MCT was initiated and the patient presented a satisfactory initial evolution. Three months later, CK were 3000 IU/L. Muscle biopsy was diagnostic of glycogenosis. Enzymatic activity in skin fibroblasts was 0% for amylo-1,6-glucosidase. The diagnosis of glycogenosis type III was established. Echocardiography performed at that time showed non-obstructive ventricular hypertrophy. Until now hypoketosis during hypoglycemia has only been described in glycogenosis type I.
authors.affiliation: Pediatric Endocrine Service, Children's Hospital Vall d'Hebron, Autonomous University of Barcelona and Center for Biomedical Research on Rare Diseases, Barcelona, Spain. mclement@vhebron.net
authors.forename: Maria
authors.initials: M
authors.lastname: Clemente
authors.forename: Miquel
authors.initials: M
authors.lastname: Gussinyer
authors.forename: José Antonio
authors.initials: JA
authors.lastname: Arranz
authors.forename: Encarnació
authors.initials: E
authors.lastname: Riudor
authors.forename: Diego
authors.initials: D
authors.lastname: Yeste
authors.forename: Marian
authors.initials: M
authors.lastname: Albisu
authors.forename: Antonio
authors.initials: A
authors.lastname: Carrascosa
mesh_terms: D058070:Asymptomatic Diseases; D019963:Clinical Chemistry Tests; D004035:Diet Therapy; D006010:Glycogen Storage Disease Type III / Q000150:complications / Q000175:diagnosis* / Q000378:metabolism; D006529:Hepatomegaly / Q000209:etiology / Q000378:metabolism / Q000473:pathology; D006801:Humans; D007003:Hypoglycemia / Q000209:etiology / Q000378:metabolism / Q000473:pathology; D007223:Infant; D007662:Ketosis / Q000175:diagnosis* / Q000209:etiology / Q000378:metabolism; D008297:Male; D018482:Muscle, Skeletal / Q000201:enzymology / Q000473:pathology / Q000503:physiopathology