Database : MEDLINE
Search on : Glycogen and Storage and Disease and Type and VI [Words]
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[PMID]: 28984260
[Au] Autor:Jagadisan B; Ranganath P
[Ad] Address:Department of Pediatrics, JIPMER, Puducherry; and *Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad; India. Correspondence to: Dr Barath Jagadisan, Associate Professor, Department of Pediatrics, JIPMER, Puducherry 605 006, India. barathjag@yahoo.com.
[Ti] Title:Glycogen Storage Disease Type VI With a Novel Mutation in PYGL Gene.
[So] Source:Indian Pediatr;54(9):775-776, 2017 Sep 15.
[Is] ISSN:0974-7559
[Cp] Country of publication:India
[La] Language:eng
[Ab] Abstract:BACKGROUND: Glycogen storage disease type VI (GSD-VI) presents with failure to thrive and also fibrosis in some cases, without cirrhosis. CASE CHARACTERISTICS: 2½-year-old girl presented with short stature, transaminase elevation and significant fibrosis, suggesting GSD-III. OBSERVATION: A pathogenic mutation in PYGL gene suggested GSD-VI. MESSAGE: GSD-VI should be a differential diagnosis whenever GSD-III is suspected.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1710
[Cu] Class update date: 171006
[Lr] Last revision date:171006
[St] Status:In-Process

  2 / 92 MEDLINE  
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[PMID]: 28685844
[Au] Autor:Skakic A; Djordjevic M; Sarajlija A; Klaassen K; Tosic N; Kecman B; Ugrin M; Spasovski V; Pavlovic S; Stojiljkovic M
[Ad] Address:Institute of Molecular Genetics and Genetic Engineering, University of Belgrade.
[Ti] Title:Genetic characterization of GSD I in Serbian population revealed unexpectedly high incidence of GSD Ib and three novel SLC37A4 variants.
[So] Source:Clin Genet;, 2017 Jul 07.
[Is] ISSN:1399-0004
[Cp] Country of publication:Denmark
[La] Language:eng
[Ab] Abstract:Glycogen storage disease (GSD) type I is inborn metabolic disease characterized by accumulation of glycogen in multiple organs. We analyzed 38 patients with clinical suspicion of GSD I using Sanger and next-generation sequencing (NGS). We identified 28 GSD Ib and five Ia patients. In five patients, GSD III, VI, IX, cholesteryl-ester storage disease and Shwachman-Diamond syndrome diagnoses were set using NGS. Incidences for GSD Ia and GSD Ib were estimated at 1:172746 and 1:60461 live-births respectively. Two variants were identified in G6PC gene: c.247C>T (p.Arg83Cys) and c.518T>C (p.Leu173Pro). In SLC37A4 gene, six variants were detected. Three previously reported variants c.81T>A (p.Asn27Lys), c.162C>A (p.Ser54Arg) and c.1042_1043delCT (p.Leu348Valfs*53) accounted for 87% of all analyzed alleles. Computational, transcription studies and/or clinical presentation in patients confirmed pathogenic effect of three novel variants: c.248G>A (p.Gly83Glu), c.404G>A (p.Gly135Asp) and c.785G>A (p.Ser263Glyfs*33 or p.Gly262Asp). In the cohort, hepatomegaly, hypoglycaemia and failure to thrive were the most frequent presenting signs of GSD Ia, while hepatomegaly and recurrent bacterial infections were clinical hallmarks of GSD Ib. All GSD Ib patients developed neutropenia while 20.6% developed inflammatory bowel disease. Our study revealed the highest worldwide incidence of GSD Ib. Furthermore, description of three novel variants will facilitate medical genetic practice.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1707
[Cu] Class update date: 170707
[Lr] Last revision date:170707
[St] Status:Publisher
[do] DOI:10.1111/cge.13093

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[PMID]: 28612263
[Au] Autor:Okechuku GO; Shoemaker LR; Dambska M; Brown LM; Mathew J; Weinstein DA
[Ad] Address:Division of Pediatric Nephrology, University of Florida, Gainesville, FL, USA.
[Ti] Title:Tight metabolic control plus ACE inhibitor therapy improves GSD I nephropathy.
[So] Source:J Inherit Metab Dis;, 2017 Jun 13.
[Is] ISSN:1573-2665
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:The onset of microalbuminuria (MA) heralds the onset of glomerulopathy in patients with glycogen storage disease (GSD) type I. Unlike tubulopathy, which responds to improved metabolic control, glomerulopathy in GSD I is considered refractory to medical intervention, and it is thought to inexorably progress to overt proteinuria and renal failure. Recent reports of reduced microalbuminuria following strict adherence to therapy counter this view. In contrast to type Ia, little is known regarding the prevalence of kidney disease in GSD Ib, 0, III, VI, and IX. Subjects were evaluated with 24-h urine collections between 2005 and 2014 as part of a longitudinal study of the natural history of GSD. ACE inhibitor therapy (AIT) was commenced after documentation of microalbuminuria. Elevated urine albumin excretion was detected in 23 of 195 GSD Ia patients (11.7%) and six of 45 GSD Ib (13.3%). The median age of onset of microalbuminuria in GSD Ia was 24 years (range 9-56); in GSD Ib it was 25 years (range 20-38). Of 14 with GSD Ia who complied with dietary and AIT during the study period, microalbuminuria decreased in 11, in whom metabolic control improved. All 135 patients with the ketotic forms of GSD (0, III, VI and IX) consistently had normal microalbumin excretion. Strict adherence to dietary therapy and maintenance of optimal metabolic control is necessary to halt the progression of GSD Ia glomerulopathy in patients treated with AIT. With optimal care, protein excretion can be reduced and even normalize.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1706
[Cu] Class update date: 170902
[Lr] Last revision date:170902
[St] Status:Publisher
[do] DOI:10.1007/s10545-017-0054-2

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[PMID]: 27144408
[Au] Autor:Capanoglu M; Dibek Misirlioglu E; Azkur D; Vezir E; Guvenir H; Gunduz M; Toyran M; Civelek E; Kocabas CN
[Ad] Address:Department of Pediatric Allergy and Immunology, Ankara Children's Hematology and Oncology Hospital, Ankara, Turkey.
[Ti] Title:IgE-Mediated Hypersensitivity and Desensitisation with Recombinant Enzymes in Pompe Disease and Type I and Type VI Mucopolysaccharidosis.
[So] Source:Int Arch Allergy Immunol;169(3):198-202, 2016.
[Is] ISSN:1423-0097
[Cp] Country of publication:Switzerland
[La] Language:eng
[Ab] Abstract:Enzyme replacement therapy (ERT) is important for the treatment of lysosomal storage disorders. Hypersensitivity reactions with ERT have been reported, and in these cases, desensitisation with the enzyme is necessary. Here we report the cases of 3 patients with lysosomal storage disorders, including Pompe disease and mucopolysaccharidosis type I and VI, who had IgE-mediated hypersensitivity reactions and positive skin tests. Successful desensitisation protocols with the culprit enzyme solution were used for these patients. All 3 patients were able to safely receive ERT with the desensitisation protocol.
[Mh] MeSH terms primary: Desensitization, Immunologic
Enzyme Replacement Therapy/adverse effects
Enzymes/adverse effects
Glycogen Storage Disease Type II/complications
Hypersensitivity, Immediate/complications
Hypersensitivity, Immediate/therapy
Mucopolysaccharidosis I/complications
Mucopolysaccharidosis VI/complications
[Mh] MeSH terms secundary: Allergens/immunology
Child, Preschool
Enzymes/administration & dosage
Female
Glycogen Storage Disease Type II/diagnosis
Glycogen Storage Disease Type II/therapy
Humans
Hypersensitivity, Immediate/diagnosis
Infant
Male
Mucopolysaccharidosis I/diagnosis
Mucopolysaccharidosis I/therapy
Mucopolysaccharidosis VI/diagnosis
Mucopolysaccharidosis VI/therapy
N-Acetylgalactosamine-4-Sulfatase/administration & dosage
N-Acetylgalactosamine-4-Sulfatase/immunology
Recombinant Proteins/adverse effects
alpha-Glucosidases/administration & dosage
alpha-Glucosidases/immunology
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Nm] Name of substance:0 (Allergens); 0 (Enzymes); 0 (Recombinant Proteins); EC 3.1.6.12 (N-Acetylgalactosamine-4-Sulfatase); EC 3.2.1.20 (GAA protein, human); EC 3.2.1.20 (alpha-Glucosidases)
[Em] Entry month:1702
[Cu] Class update date: 170817
[Lr] Last revision date:170817
[Js] Journal subset:IM
[Da] Date of entry for processing:160505
[St] Status:MEDLINE
[do] DOI:10.1159/000446154

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[PMID]: 26526422
[Au] Autor:Hoogeveen IJ; van der Ende RM; van Spronsen FJ; de Boer F; Heiner-Fokkema MR; Derks TG
[Ad] Address:Section of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, University Medical Center Groningen, 30 001, 9700 RB, Groningen, The Netherlands.
[Ti] Title:Normoglycemic Ketonemia as Biochemical Presentation in Ketotic Glycogen Storage Disease.
[So] Source:JIMD Rep;28:41-47, 2016.
[Is] ISSN:2192-8304
[Cp] Country of publication:Germany
[La] Language:eng
[Ab] Abstract:BACKGROUND: According to the textbooks, the ketotic glycogen storage disease (GSD) types 0, III, VI, IX, and XI are associated with fasting ketotic hypoglycemia and considered milder as gluconeogenesis is intact. METHODS: A retrospective cohort study of biochemical profiles from supervised clinical fasting studies is performed in ketotic GSD patients in our metabolic center. For data analysis, hypoglycemia was defined as plasma glucose concentration <2.6 mmol/L. Total KB was defined as the sum of blood acetoacetate and ß-hydroxybutyrate concentrations. If the product of glucose and KB concentrations was greater than 10, a ketolysis defect was suspected. RESULTS: Data could be collected from 13 fasting studies in 12 patients with GSD III (n = 4), GSD VI (n = 3), and GSD IX (n = 5). Six patients remained normoglycemic with median glucose concentration of 3.9 mmol/L (range, 2.8-4.6 mmol/L) and median total KB concentration of 1.9 mmol/L (range, 0.6-5.1 mmol/L). The normoglycemic patients included type VI (3 out of 3) and type IX (3 out of 5) patients. All type III patients developed ketotic hypoglycemia. Interestingly, in five patients (one GSD III, one GSD VI, and three GSD IX), the biochemical profile suggested a ketolysis defect. CONCLUSION: Normoglycemic ketonemia is a common biochemical presentation in patients with GSD types VI and IX, and ketonemia can precede hypoglycemia in all studied GSD types. Therefore, GSD VI and GSD IX should be added to the differential diagnosis of ketotic normoglycemia, and KB concentrations should be routinely measured in ketotic GSD patients.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1511
[Cu] Class update date: 170816
[Lr] Last revision date:170816
[St] Status:PubMed-not-MEDLINE

  6 / 92 MEDLINE  
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[PMID]: 26001652
[Au] Autor:Burda P; Hochuli M
[Ad] Address:aDivision of Metabolism and Children's Research Center, University Children's Hospital bDivision of Endocrinology, Diabetes, and Clinical Nutrition, University Hospital Zurich cradiz - Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases, University of Zurich, Switzerland.
[Ti] Title:Hepatic glycogen storage disorders: what have we learned in recent years?
[So] Source:Curr Opin Clin Nutr Metab Care;18(4):415-21, 2015 Jul.
[Is] ISSN:1473-6519
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:PURPOSE OF REVIEW: Glycogen storage disorders (GSDs) are inborn errors of metabolism with abnormal storage or utilization of glycogen. The present review focuses on recent advances in hepatic GSD types I, III and VI/IX, with emphasis on clinical aspects and treatment. RECENT FINDINGS: Evidence accumulates that poor metabolic control is a risk factor for the development of long-term complications, such as liver adenomas, low bone density/osteoporosis, and kidney disease in GSD I. However, mechanisms leading to these complications remain poorly understood and are being investigated. Molecular causes underlying neutropenia and neutrophil dysfunction in GSD I have been elucidated. Case series provide new insights into the natural course and outcome of GSD types VI and IX. For GSD III, a high protein/fat diet has been reported to improve (cardio)myopathy, but the beneficial effect of this dietary concept on muscle and liver disease manifestations needs to be further established in prospective studies. SUMMARY: Although further knowledge has been gained regarding pathophysiology, disease course, treatment, and complications of hepatic GSDs, more controlled prospective studies are needed to assess effects of different dietary and medical treatment options on long-term outcome and quality of life.
[Mh] MeSH terms primary: Glycogen Storage Disease Type III/physiopathology
Glycogen Storage Disease Type I/physiopathology
Glycogen Storage Disease Type VI/physiopathology
Liver/physiopathology
[Mh] MeSH terms secundary: Animals
Cardiomyopathies/complications
Cardiomyopathies/diet therapy
Cardiomyopathies/physiopathology
Diet, Carbohydrate-Restricted
Diet, High-Fat
Dietary Carbohydrates/administration & dosage
Dietary Fats/administration & dosage
Dietary Proteins/administration & dosage
Disease Models, Animal
Glycogen/metabolism
Glycogen Storage Disease Type I/complications
Glycogen Storage Disease Type I/diagnosis
Glycogen Storage Disease Type I/diet therapy
Glycogen Storage Disease Type III/complications
Glycogen Storage Disease Type III/diagnosis
Glycogen Storage Disease Type III/diet therapy
Glycogen Storage Disease Type VI/complications
Glycogen Storage Disease Type VI/diagnosis
Glycogen Storage Disease Type VI/diet therapy
Humans
Liver Cirrhosis/complications
Liver Cirrhosis/diet therapy
Liver Cirrhosis/physiopathology
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T; REVIEW
[Nm] Name of substance:0 (Dietary Carbohydrates); 0 (Dietary Fats); 0 (Dietary Proteins); 9005-79-2 (Glycogen)
[Em] Entry month:1603
[Cu] Class update date: 150608
[Lr] Last revision date:150608
[Js] Journal subset:IM
[Da] Date of entry for processing:150524
[St] Status:MEDLINE
[do] DOI:10.1097/MCO.0000000000000181

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[PMID]: 25563007
[Au] Autor:Kurbatova OV; Izmailova TD; Surkov AN; Namazova-Baranova LS; Poliakova SI; Miroshkina LV; Semenova GF; Samokhina IV; Kapustina EIu; Dukhova ZN; Potapov AS; Petrichuk SV
[Ti] Title:[Mitochondrial dysfunction in children with hepatic forms of glycogen storage disease].
[So] Source:Vestn Ross Akad Med Nauk;(7-8):78-84, 2014.
[Is] ISSN:0869-6047
[Cp] Country of publication:Russia (Federation)
[La] Language:rus
[Ab] Abstract:AIM: The purpose of the study was to assess mitochondrial dysfunction severity in patients with hepatic forms of glycogen storage disease (GSD). PATIENTS AND METHODS: We examined 53 children with GSD in the dynamics. Distribution of children by disease types was: 1st group--children with GSD type I, 2nd group--children with GSD type III, 3rd group--children with GSD type VI and IX; comparison group consisted of 34 healthy children. Intracellular dehydrogenases activity: succinate dehydrogenase (SDH), glycerol-3-phosphate-dehydrogenase (GPDH). nicotinamideadenin-H-dehydrogenase (NADH-D) and lactatdehydrogenase (LDH) was measured using the quantitative cytochemical method in the peripheral lymphocytes. RESULTS: It was revealed decrease of SDH- (p < 0.001) and GPDH-activities (p < 0.001), along with increase of the NADH-D activity (p < 0.05) in all patients with GSD, (SDH/ NADH-D) index was decreased (p < 0.001). LDH activity was increased in groups 1 (p < 0.05) and 3 (p < 0.01), compared with comparison group. The most pronounced intracellular enzymes activity deviations were observed in children with GSD type I, that correspond to more severe clinical form of GSD. It was found strong correlation between intracellular enzymes activity and both hepatomegaly level (R = 0.867) and metabolic acidosis severity (R = 0.987). CONCLUSION: Our investigation revealed features of mitochondrial dysfunction in children with GSD, depending on the GSD type. Activities of lymphocytes enzymes correlates with the main disease severity parameters and can be used as an additional diagnostic criteria in children with hepatic form of GSD.
[Mh] MeSH terms primary: Glycogen Storage Disease Type III
Glycogen Storage Disease Type I
Glycogen Storage Disease Type VI
Liver
Lymphocytes/metabolism
Mitochondria/metabolism
[Mh] MeSH terms secundary: Carbohydrate Metabolism
Child
Cytological Techniques/methods
Female
Glycogen Storage Disease Type I/diagnosis
Glycogen Storage Disease Type I/metabolism
Glycogen Storage Disease Type I/physiopathology
Glycogen Storage Disease Type III/diagnosis
Glycogen Storage Disease Type III/metabolism
Glycogen Storage Disease Type III/physiopathology
Glycogen Storage Disease Type VI/diagnosis
Glycogen Storage Disease Type VI/metabolism
Glycogen Storage Disease Type VI/physiopathology
Humans
Liver/metabolism
Liver/pathology
Liver/physiopathology
Male
Oxidoreductases/analysis
Oxidoreductases/classification
Oxidoreductases/metabolism
Severity of Illness Index
Statistics as Topic
[Pt] Publication type:ENGLISH ABSTRACT; JOURNAL ARTICLE
[Nm] Name of substance:EC 1.- (Oxidoreductases)
[Em] Entry month:1502
[Cu] Class update date: 161020
[Lr] Last revision date:161020
[Js] Journal subset:IM
[Da] Date of entry for processing:150108
[St] Status:MEDLINE

  8 / 92 MEDLINE  
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[PMID]: 25266922
[Au] Autor:Roscher A; Patel J; Hewson S; Nagy L; Feigenbaum A; Kronick J; Raiman J; Schulze A; Siriwardena K; Mercimek-Mahmutoglu S
[Ad] Address:Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, Toronto, ON, Canada; Medical University of Vienna, Department of Pediatric and Adolescent Medicine, Vienna, Austria.
[Ti] Title:The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in Canada.
[So] Source:Mol Genet Metab;113(3):171-6, 2014 Nov.
[Is] ISSN:1096-7206
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:OBJECTIVES: Glycogen storage disease (GSD) types VI and IX are caused by phosphorylase system deficiencies. To evaluate the natural history and long-term treatment outcome of the patients with GSD-VI and -IX, we performed an observational retrospective case study of 21 patients with confirmed diagnosis of GSD-VI or -IX. METHODS: All patients with GSD-VI or -IX, diagnosed at The Hospital for Sick Children, were included. Electronic and paper charts were reviewed for clinical features, biochemical investigations, molecular genetic testing, diagnostic imaging, long-term outcome and treatment by two independent research team members. All information was entered into an Excel database. RESULTS: We report on the natural history and treatment outcomes of the 21 patients with GSD-VI and -IX and 16 novel pathogenic mutations in the PHKA2, PHKB, PHKG2 and PYGL genes. We report for the first time likely liver adenoma on liver ultrasound and liver fibrosis on liver biopsy specimens in patients with GSD-VI and mild cardiomyopathy on echocardiography in patients with GSD-VI and -IXb. CONCLUSION: We recommend close monitoring in all patients with GSD-VI and -IX for the long-term liver and cardiac complications. There is a need for future studies if uncooked cornstarch and high protein diet would be able to prevent long-term complications of GSD-VI and -IX.
[Mh] MeSH terms primary: Glycogen Storage Disease Type VI/genetics
[Mh] MeSH terms secundary: Adolescent
Canada
Child
Child, Preschool
DNA Mutational Analysis
Female
Glycogen Storage Disease/complications
Glycogen Storage Disease/genetics
Glycogen Storage Disease/therapy
Glycogen Storage Disease Type VI/complications
Glycogen Storage Disease Type VI/therapy
Humans
Liver Cirrhosis/genetics
Male
Retrospective Studies
Treatment Outcome
[Pt] Publication type:JOURNAL ARTICLE; OBSERVATIONAL STUDY
[Em] Entry month:1510
[Cu] Class update date: 141202
[Lr] Last revision date:141202
[Js] Journal subset:IM
[Da] Date of entry for processing:141001
[St] Status:MEDLINE

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[PMID]: 24234586
[Au] Autor:Parker EI; Xing M; Moreno-De-Luca A; Harmouche E; Terk MR
[Ti] Title:Radiological and clinical characterization of the lysosomal storage disorders: non-lipid disorders.
[So] Source:Br J Radiol;87(1033):20130467, 2014 Jan.
[Is] ISSN:1748-880X
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Lysosomal storage diseases (LSDs) are a large group of genetic metabolic disorders that result in the accumulation of abnormal material, such as mucopolysaccharides, glycoproteins, amino acids and lipids, within cells. Since many LSDs manifest during infancy or early childhood, with potentially devastating consequences if left untreated, timely identification is imperative to prevent irreversible damage and early death. In this review, the key imaging features of the non-lipid or extralipid LSDs are examined and correlated with salient clinical manifestations and genetic information. Disorders are stratified based on the type of excess material causing tissue or organ dysfunction, with descriptions of the mucopolysaccharidoses, mucolipidoses, alpha-mannosidosis, glycogen storage disorder II and cystinosis. In addition, similarities and differences in radiological findings between each of these LSDs are highlighted to facilitate further recognition. Given the rare and extensive nature of the LSDs, mastery of their multiple clinical and radiological traits may seem challenging. However, an understanding of the distinguishing imaging characteristics of LSDs and their clinical correlates may allow radiologists to play a key role in the early diagnosis of these progressive and potentially fatal disorders.
[Mh] MeSH terms primary: Lysosomal Storage Diseases/diagnosis
[Mh] MeSH terms secundary: Diagnosis, Differential
Glucuronidase/metabolism
Humans
Lyases/metabolism
Lysosomal Storage Diseases/enzymology
Metabolism, Inborn Errors/diagnosis
Mucopolysaccharidosis I/diagnosis
Mucopolysaccharidosis II/diagnosis
Mucopolysaccharidosis III/diagnosis
Mucopolysaccharidosis IV/diagnosis
Mucopolysaccharidosis VI/diagnosis
Mucopolysaccharidosis VII/diagnosis
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Nm] Name of substance:9031-30-5 (mucopolysaccharidase); EC 3.2.1.31 (Glucuronidase); EC 4.- (Lyases)
[Em] Entry month:1402
[Cu] Class update date: 160804
[Lr] Last revision date:160804
[Js] Journal subset:AIM; IM
[Da] Date of entry for processing:131116
[St] Status:MEDLINE
[do] DOI:10.1259/bjr.20130467

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[PMID]: 22587661
[Au] Autor:Douillard C; Mention K; Dobbelaere D; Wemeau JL; Saudubray JM; Vantyghem MC
[Ad] Address:Service d'Endocrinologie et maladies Métaboliques, Hôpital Claude Huriez, Centre Hospitalier Régional et Universitaire de Lille, France. claire.douillard@chru-lille.fr
[Ti] Title:Hypoglycaemia related to inherited metabolic diseases in adults.
[So] Source:Orphanet J Rare Dis;7:26, 2012 May 15.
[Is] ISSN:1750-1172
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:In non-diabetic adult patients, hypoglycaemia may be related to drugs, critical illness, cortisol or glucagon insufficiency, non-islet cell tumour, insulinoma, or it may be surreptitious. Nevertheless, some hypoglycaemic episodes remain unexplained, and inborn errors of metabolism (IEM) should be considered, particularly in cases of multisystemic involvement. In children, IEM are considered a differential diagnosis in cases of hypoglycaemia. In adulthood, IEM-related hypoglycaemia can persist in a previously diagnosed childhood disease. Hypoglycaemia may sometimes be a presenting sign of the IEM. Short stature, hepatomegaly, hypogonadism, dysmorphia or muscular symptoms are signs suggestive of IEM-related hypoglycaemia. In both adults and children, hypoglycaemia can be clinically classified according to its timing. Postprandial hypoglycaemia can be an indicator of either endogenous hyperinsulinism linked to non-insulinoma pancreatogenic hypoglycaemia syndrome (NIPHS, unknown incidence in adults) or very rarely, inherited fructose intolerance. Glucokinase-activating mutations (one family) are the only genetic disorder responsible for NIPH in adults that has been clearly identified so far. Exercise-induced hyperinsulinism is linked to an activating mutation of the monocarboxylate transporter 1 (one family). Fasting hypoglycaemia may be caused by IEM that were already diagnosed in childhood and persist into adulthood: glycogen storage disease (GSD) type I, III, 0, VI and IX; glucose transporter 2 deficiency; fatty acid oxidation; ketogenesis disorders; and gluconeogenesis disorders. Fasting hypoglycaemia in adulthood can also be a rare presenting sign of an IEM, especially in GSD type III, fatty acid oxidation [medium-chain acyl-CoA dehydrogenase (MCAD), ketogenesis disorders (3-hydroxy-3-methyl-glutaryl-CoA (HMG-CoA) lyase deficiency, and gluconeogenesis disorders (fructose-1,6-biphosphatase deficiency)].
[Mh] MeSH terms primary: Hypoglycemia/diagnosis
Hypoglycemia/etiology
Metabolism, Inborn Errors/complications
Metabolism, Inborn Errors/diagnosis
[Mh] MeSH terms secundary: Adult
Humans
Metabolism, Inborn Errors/genetics
Metabolism, Inborn Errors/physiopathology
Rare Diseases
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1302
[Cu] Class update date: 150225
[Lr] Last revision date:150225
[Js] Journal subset:IM
[Da] Date of entry for processing:120517
[St] Status:MEDLINE
[do] DOI:10.1186/1750-1172-7-26


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