| Glycogen storage disease type III with hypoketosis. | |
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MedLine Citation:
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PMID: 21073127 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Maria Clemente; Miquel Gussinyer; José Antonio Arranz; Encarnació Riudor; Diego Yeste; Marian Albisu; Antonio Carrascosa |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Journal of pediatric endocrinology & metabolism : JPEM Volume: 23 ISSN: 0334-018X ISO Abbreviation: J. Pediatr. Endocrinol. Metab. Publication Date: 2010 Aug |
Date Detail:
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Created Date: 2010-11-15 Completed Date: 2010-11-30 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9508900 Medline TA: J Pediatr Endocrinol Metab Country: England |
Other Details:
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Languages: eng Pagination: 833-6 Citation Subset: IM |
Affiliation:
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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 |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Asymptomatic Diseases Clinical Chemistry Tests Diet Therapy Glycogen Storage Disease Type III / complications, diagnosis*, metabolism Hepatomegaly / etiology, metabolism, pathology Humans Hypoglycemia / etiology, metabolism, pathology Infant Ketosis / diagnosis*, etiology, metabolism Male Muscle, Skeletal / enzymology, pathology, physiopathology |
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