Document Detail

Glycogen storage disease type III with hypoketosis.
MedLine Citation:
PMID:  21073127     Owner:  NLM     Status:  MEDLINE    
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.
Maria Clemente; Miquel Gussinyer; José Antonio Arranz; Encarnació Riudor; Diego Yeste; Marian Albisu; Antonio Carrascosa
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Journal of pediatric endocrinology & metabolism : JPEM     Volume:  23     ISSN:  0334-018X     ISO Abbreviation:  J. Pediatr. Endocrinol. Metab.     Publication Date:  2010 Aug 
Date Detail:
Created Date:  2010-11-15     Completed Date:  2010-11-30     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9508900     Medline TA:  J Pediatr Endocrinol Metab     Country:  England    
Other Details:
Languages:  eng     Pagination:  833-6     Citation Subset:  IM    
Pediatric Endocrine Service, Children's Hospital Vall d'Hebron, Autonomous University of Barcelona and Center for Biomedical Research on Rare Diseases, Barcelona, Spain.
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MeSH Terms
Asymptomatic Diseases
Clinical Chemistry Tests
Diet Therapy
Glycogen Storage Disease Type III / complications,  diagnosis*,  metabolism
Hepatomegaly / etiology,  metabolism,  pathology
Hypoglycemia / etiology,  metabolism,  pathology
Ketosis / diagnosis*,  etiology,  metabolism
Muscle, Skeletal / enzymology,  pathology,  physiopathology

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