Database : MEDLINE
Search on : glycogen and storage and disease and type and iv [Words]
References found : 452 [refine]
Displaying: 1 .. 10   in format [Detailed]

page 1 of 46 go to page                         

  1 / 452 MEDLINE  
              next record last record
select
to print
Photocopy
Full text

[PMID]: 28882528
[Au] Autor:Preisler N; Cohen J; Vissing CR; Madsen KL; Heinicke K; Sharp LJ; Phillips L; Romain N; Park SY; Newby M; Wyrick P; Mancias P; Galbo H; Vissing J; Haller RG
[Ad] Address:Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark. Electronic address: npreisler@hotmail.com.
[Ti] Title:Impaired glycogen breakdown and synthesis in phosphoglucomutase 1 deficiency.
[So] Source:Mol Genet Metab;, 2017 Aug 25.
[Is] ISSN:1096-7206
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:OBJECTIVE: We investigated metabolism and physiological responses to exercise in an 18-year-old woman with multiple congenital abnormalities and exertional muscle fatigue, tightness, and rhabdomyolysis. METHODS: We studied biochemistry in muscle and fibroblasts, performed mutation analysis, assessed physiological responses to forearm and cycle-ergometer exercise combined with stable-isotope techniques and indirect calorimetry, and evaluated the effect of IV glucose infusion and oral sucrose ingestion on the exercise response. RESULTS: Phosphoglucomutase type 1 (PGM1) activity in muscle and fibroblasts was severely deficient and PGM1 in muscle was undetectable by Western blot. The patient was compound heterozygous for missense (R422W) and nonsense (Q530X) mutations in PGM1. Forearm exercise elicited no increase in lactate, but an exaggerated increase in ammonia, and provoked a forearm contracture. Comparable to patients with McArdle disease, the patient developed a 'second wind' with a spontaneous fall in exercise heart rate and perceived exertion. Like in McArdle disease, this was attributable to an increase in muscle oxidative capacity. Carbohydrate oxidation was blocked during exercise, and the patient had exaggerated oxidation of fat to fuel exercise. Exercise heart rate and perceived exertion were lower after IV glucose and oral sucrose. Muscle glycogen level was low normal. CONCLUSIONS: The second wind phenomenon has been considered to be pathognomonic for McArdle disease, but we demonstrate that it can also be present in PGM1 deficiency. We show that severe loss of PGM1 activity causes blocked muscle glycogenolysis that mimics McArdle disease, but may also limit glycogen synthesis, which broadens the phenotypic spectrum of this disorder.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1709
[Cu] Class update date: 170908
[Lr] Last revision date:170908
[St] Status:Publisher

  2 / 452 MEDLINE  
              first record previous record next record last record
select
to print
Photocopy
Full text

[PMID]: 28497716
[Au] Autor:Yu W; Brundler MA; Wright JR
[Ad] Address:1 Departments of Pathology & Laboratory Medicine and Paediatrics, University of Calgary Cumming School of Medicine and Calgary Laboratory Services, Calgary, Alberta, Canada.
[Ti] Title:Polyglucosan Bodies in Placental Extravillious Trophoblast for the Diagnosis of Fatal Perinatal Neuromuscular Type Glycogen Storage Disease Type IV.
[So] Source:Pediatr Dev Pathol;:1093526617707852, 2017 Jan 01.
[Is] ISSN:1093-5266
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:The fatal infantile neuromuscular type is the most severe form of glycogen storage disease type IV. We report a case of a 22-day-old female neonate born at 34 weeks gestation with polyhyramnios, fetal hydrops, and severe hypotonia. Placental examination revealed numerous periodic acid schiff (PAS)-positive diastase-resistant polyglucosan bodies in the cytoplasm of extravillous trophoblast predominantly in the placental basal plate. Muscle biopsy and autopsy findings supported a diagnosis of neuromuscular-type glycogen storage disease IV with extensive involvement of skeletal muscle, heart, and liver. The diagnosis was confirmed by molecular genetic testing. We could only find one prior report in the English literature that describes placental pathological changes. Our findings suggest that placental examination can be a useful adjunct for early diagnosis, as placentas are often received for pathological examination shortly after birth and usually before a diagnostic muscle biopsy can be performed. Pathologists need to be aware of characteristic placental features.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1705
[Cu] Class update date: 170512
[Lr] Last revision date:170512
[St] Status:Publisher
[do] DOI:10.1177/1093526617707852

  3 / 452 MEDLINE  
              first record previous record next record last record
select
to print
Photocopy
Full text

[PMID]: 28275655
[Au] Autor:Lee K; Ernst T; Løhaugen G; Zhang X; Chang L
[Ad] Address:Department of Medicine University of Hawai'i at Manoa Honolulu Hawaii.
[Ti] Title:Neural correlates of adaptive working memory training in a glycogen storage disease type-IV patient.
[So] Source:Ann Clin Transl Neurol;4(3):217-222, 2017 Mar.
[Is] ISSN:2328-9503
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Glycogen storage disease type-IV has varied clinical presentations and subtypes. We evaluated a 38-year-old man with memory complaints, common symptoms in adult polyglucosan body disease subtype, and investigated cognitive and functional MRI changes associated with two 25-sessions of adaptive working memory training. He showed improved trained and nontrained working memory up to 6-months after the training sessions. On functional MRI, he showed increased cortical activation 1-3 months after training, but both increased and decreased activation 6-months later. Working memory training appears to be beneficial to patients with adult polyglucosan body disease, although continued training may be required to maintain improvements.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1703
[Cu] Class update date: 170312
[Lr] Last revision date:170312
[St] Status:PubMed-not-MEDLINE
[do] DOI:10.1002/acn3.394

  4 / 452 MEDLINE  
              first record previous record next record last record
select
to print
Photocopy
Full text

[PMID]: 27832700
[Au] Autor:Yi H; Zhang Q; Brooks ED; Yang C; Thurberg BL; Kishnani PS; Sun B
[Ad] Address:1 Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center , Durham, North Carolina.
[Ti] Title:Systemic Correction of Murine Glycogen Storage Disease Type IV by an AAV-Mediated Gene Therapy.
[So] Source:Hum Gene Ther;28(3):286-294, 2017 Mar.
[Is] ISSN:1557-7422
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Deficiency of glycogen branching enzyme (GBE) causes glycogen storage disease type IV (GSD IV), which is characterized by the accumulation of a less branched, poorly soluble form of glycogen called polyglucosan (PG) in multiple tissues. This study evaluates the efficacy of gene therapy with an adeno-associated viral (AAV) vector in a mouse model of adult form of GSD IV (Gbe1 ). An AAV serotype 9 (AAV9) vector containing a human GBE expression cassette (AAV-GBE) was intravenously injected into 14-day-old Gbe1 mice at a dose of 5 × 10 vector genomes per mouse. Mice were euthanized at 3 and 9 months of age. In the AAV-treated mice at 3 months of age, GBE enzyme activity was highly elevated in heart, which is consistent with the high copy number of the viral vector genome detected. GBE activity also increased significantly in skeletal muscles and the brain, but not in the liver. The glycogen content was reduced to wild-type levels in muscles and significantly reduced in the liver and brain. At 9 months of age, though GBE activity was only significantly elevated in the heart, glycogen levels were significantly reduced in the liver, brain, and skeletal muscles of the AAV-treated mice. In addition, the AAV treatment resulted in an overall decrease in plasma activities of alanine transaminase, aspartate transaminase, and creatine kinase, and a significant increase in fasting plasma glucose concentration at 9 months of age. This suggests an alleviation of damage and improvement of function in the liver and muscles by the AAV treatment. This study demonstrated a long-term benefit of a systemic injection of an AAV-GBE vector in Gbe1 mice.
[Mh] MeSH terms primary: 1,4-alpha-Glucan Branching Enzyme/genetics
Dependovirus/genetics
Genetic Therapy
Genetic Vectors/administration & dosage
Glycogen Storage Disease Type IV/therapy
Glycogen/metabolism
[Mh] MeSH terms secundary: Animals
Disease Models, Animal
Glycogen Storage Disease Type IV/genetics
Humans
Liver/metabolism
Male
Mice
Mice, Inbred C57BL
Muscle, Skeletal/metabolism
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:9005-79-2 (Glycogen); EC 2.4.1.18 (1,4-alpha-Glucan Branching Enzyme)
[Em] Entry month:1709
[Cu] Class update date: 170912
[Lr] Last revision date:170912
[Js] Journal subset:IM
[Da] Date of entry for processing:161112
[St] Status:MEDLINE
[do] DOI:10.1089/hum.2016.099

  5 / 452 MEDLINE  
              first record previous record next record last record
select
to print
Photocopy
Full text

[PMID]: 27142047
[Au] Autor:Mori M; Bailey LA; Estrada J; Rehder CW; Li JS; Rogers JG; Bali DS; Buckley AF; Kishnani PS
[Ad] Address:Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center (DUMC), Box 103856, Durham, NC, 27710, USA. mari.mori@duke.edu.
[Ti] Title:Severe Cardiomyopathy as the Isolated Presenting Feature in an Adult with Late-Onset Pompe Disease: A Case Report.
[So] Source:JIMD Rep;31:79-83, 2017.
[Is] ISSN:2192-8304
[Cp] Country of publication:Germany
[La] Language:eng
[Ab] Abstract:Many inborn errors of metabolism can cause cardiomyopathy. Cardiomyopathy associated with glycogen storage includes PRKAG2-associated glycogen storage disease (GSD), Danon disease, infantile-onset Pompe disease (GSD II), GSD III, GSD IV, and phosphofructokinase deficiency (Tarui disease or GSD VII).We present a 35-year-old female who presented with cardiomyopathy after a pregnancy complicated by primary hyperparathyroidism. She had enjoyed excellent health until her first pregnancy at age 33. One week postpartum, she developed dyspnea and an echocardiogram revealed left ventricular ejection fraction (LVEF) of 35%. A cardiac MRI was consistent with nonischemic cardiomyopathy with an infiltrative process. Endomyocardial biopsy showed striking sarcoplasmic vacuolization, excess glycogen by PAS staining, and frequent membrane-bound glycogen by electron microscopy, consistent with lysosomal GSD. Acid alpha-glucosidase (GAA) activity in skin fibroblasts was in the affected range for Pompe disease. Sequencing of the GAA gene revealed a paternally inherited pathogenic c.525delT (p.Glu176Argfs*45) and a de novo c.309C>G (p.Cys103Trp) with unknown pathogenicity. Testing of the familial mutations in her daughter indicated that the variants in the proband were in trans. 26-gene cardiomyopathy sequencing panel had normal results thereby excluding GSD III, Danon disease, Fabry disease, and PRKAG2-associated cardiomyopathy. Therefore, results strongly suggest a diagnosis of Pompe disease.Pompe disease has a broad disease spectrum, including infantile-onset (IOPD) and late-onset (LOPD) forms. LOPD typically presents with proximal muscle weakness and respiratory insufficiency in childhood or late adulthood. Our case may represent a very unusual presentation of adult LOPD with isolated cardiomyopathy without skeletal muscle involvement or respiratory failure.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1605
[Cu] Class update date: 170816
[Lr] Last revision date:170816
[St] Status:PubMed-not-MEDLINE
[do] DOI:10.1007/8904_2016_563

  6 / 452 MEDLINE  
              first record previous record next record last record
select
to print
Photocopy

[PMID]: 27747161
[Au] Autor:Yi H; Gao F; Austin S; Kishnani PS; Sun B
[Ad] Address:Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC 27710, USA.
[Ti] Title:Alglucosidase alfa treatment alleviates liver disease in a mouse model of glycogen storage disease type IV.
[So] Source:Mol Genet Metab Rep;9:31-33, 2016 Dec.
[Is] ISSN:2214-4269
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Patients with progressive hepatic form of GSD IV often die of liver failure in early childhood. We tested the feasibility of using recombinant human acid-α glucosidase (rhGAA) for treating GSD IV. Weekly intravenously injection of rhGAA at 40 mg/kg for 4 weeks significantly reduced hepatic glycogen accumulation, lowered liver/body weight ratio, and reduced plasma ALP and ALT activities in GSD IV mice. Our data suggests that rhGAA is a potential therapy for GSD IV.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1610
[Cu] Class update date: 170816
[Lr] Last revision date:170816
[St] Status:PubMed-not-MEDLINE

  7 / 452 MEDLINE  
              first record previous record next record last record
select
to print
Photocopy
Full text

[PMID]: 27571123
[Au] Autor:Glasser CL; Picoraro JA; Jain P; Kinberg S; Rustia E; Gross Margolis K; Anyane-Yeboa K; Iglesias AD; Green NS
[Ad] Address:*Department of Pediatric Hematology/Oncology, Winthrop University Medical Center, Mineola †Division of Pediatric Gastroenterology, Hepatology, and Nutrition Departments of §Pediatric Hematology, Oncology and Stem Cell Transplantation ‡Pathology, Cell Biology, and Personalized Genomic Medicine ∥Pediatrics, Division of Clinical Genetics, Columbia University Medical center, New York, NY.
[Ti] Title:Phenotypic Heterogeneity of Neutropenia and Gastrointestinal Illness Associated with G6PC3 Founder Mutation.
[So] Source:J Pediatr Hematol Oncol;38(7):e243-7, 2016 Oct.
[Is] ISSN:1536-3678
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Severe congenital neutropenia type IV (SCN IV) is a syndrome of severe neutropenia, cardiac and urogenital defects, prominent superficial veins, facial dysmorphism, failure to thrive (FTT), and intermittent thrombocytopenia, caused by a glucose-6-phosphatase catalytic subunit 3 (G6PC3) gene mutation. SCN IV has been linked to glycogen storage disease type 1b as both disorders involve disruption of the glucose-6-phosphatase/glucose-6-phosphate transporter complex, leading to arrested neutrophil maturation. Emerging evidence suggests that neutrophil function plays an important role in intestinal integrity, evidenced by inflammatory bowel disease in certain neutropenic patients. Here, we report 3 unrelated Hispanic males from the Dominican Republic with classic features of SCN IV found to share an identical inherited canonical splice-site mutation of the G6PC3 gene (c.218+1G>A). All 3 patients presented with severe FTT and gastrointestinal manifestations. Two of the patients had significant improvement in growth and resolution of gastrointestional symptoms with initiation of granulocyte colony-stimulating factor. We hypothesize that the gene variant described represents a founder mutation in the Dominican Republic, the first to be described in this geographical region. We discuss the potential associations between neutropenia and gastrointestinal disease with FTT and the role of granulocyte colony-stimulating factor in improving neutrophil count and intestinal integrity and growth.
[Mh] MeSH terms primary: Gastrointestinal Diseases/genetics
Glucose-6-Phosphatase/genetics
Mutation
Neutropenia/congenital
[Mh] MeSH terms secundary: Adolescent
Child
Child, Preschool
Failure to Thrive/etiology
Granulocyte Colony-Stimulating Factor/therapeutic use
Humans
Male
Neutropenia/drug therapy
Neutropenia/genetics
Phenotype
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:143011-72-7 (Granulocyte Colony-Stimulating Factor); EC 3.1.3.9 (Glucose-6-Phosphatase); EC 3.1.3.9. (G6PC3 protein, human)
[Em] Entry month:1708
[Cu] Class update date: 170830
[Lr] Last revision date:170830
[Js] Journal subset:IM
[Da] Date of entry for processing:160830
[St] Status:MEDLINE
[do] DOI:10.1097/MPH.0000000000000660

  8 / 452 MEDLINE  
              first record previous record next record last record
select
to print
Photocopy
Full text

[PMID]: 27546458
[Au] Autor:Malfatti E; Barnerias C; Hedberg-Oldfors C; Gitiaux C; Benezit A; Oldfors A; Carlier RY; Quijano-Roy S; Romero NB
[Ad] Address:Sorbonne Universités, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Center for Research in Myology, GHU La Pitié-Salpêtrière, 47 Boulevard de l'hôpital, 75013 Paris, France; Unité de Morphologie Neuromusculaire, Institut de Myologie, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris,
[Ti] Title:A novel neuromuscular form of glycogen storage disease type IV with arthrogryposis, spinal stiffness and rare polyglucosan bodies in muscle.
[So] Source:Neuromuscul Disord;26(10):681-687, 2016 Oct.
[Is] ISSN:1873-2364
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Glycogen storage disease type IV (GSD IV) is an autosomal recessive disorder causing polyglucosan storage in various tissues. Neuromuscular forms present with fetal akinesia deformation sequence, lethal myopathy, or mild hypotonia and weakness. A 3-year-old boy presented with arthrogryposis, motor developmental delay, weakness, and rigid spine. Whole body MRI revealed fibroadipose muscle replacement but sparing of the sartorius, gracilis, adductor longus and vastus intermedialis muscles. Polyglucosan bodies were identified in muscle, and GBE1 gene analysis revealed two pathogenic variants. We describe a novel neuromuscular GSD IV phenotype and confirm the importance of muscle morphological studies in early onset neuromuscular disorders.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1608
[Cu] Class update date: 161003
[Lr] Last revision date:161003
[St] Status:In-Process

  9 / 452 MEDLINE  
              first record previous record next record last record
select
to print
Photocopy
Full text

[PMID]: 27442143
[Au] Autor:Schänzer A; Faas D; Rust S; Podskarbi T; van Kuilenburg AB; Scarpa M; Kunze A; Marquardt T; Hahn A
[Ti] Title:Deutlich erhöhte Chitotriosidase Aktivität bei einem Kind mit kongenitalem Morbus Anderson (Glykogenspeicherkrankung Typ IV). Distinctly Elevated Chitotriosidase Activity in a Child with Congenital Andersen Disease (Glycogen Storage Disease Type IV).
[So] Source:Klin Padiatr;228(5):277-9, 2016 Sep.
[Is] ISSN:1439-3824
[Cp] Country of publication:Germany
[La] Language:eng
[Mh] MeSH terms primary: Glycogen Storage Disease Type IV/diagnosis
Glycogen Storage Disease Type IV/enzymology
Hexosaminidases/blood
[Mh] MeSH terms secundary: Biopsy
Carbon-Carbon Ligases/deficiency
Carbon-Carbon Ligases/genetics
Consanguinity
DNA Mutational Analysis
Female
Genes, Recessive/genetics
Germany
Glycogen Storage Disease Type IV/genetics
Glycogen Storage Disease Type IV/pathology
Humans
Infant, Newborn
Macrophages/pathology
Muscle, Skeletal/pathology
Myofibrils/pathology
Turkey/ethnology
Urea Cycle Disorders, Inborn/diagnosis
Urea Cycle Disorders, Inborn/enzymology
Urea Cycle Disorders, Inborn/genetics
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Nm] Name of substance:EC 3.2.1.- (Hexosaminidases); EC 3.2.1.- (chitotriosidase); EC 6.4.- (Carbon-Carbon Ligases)
[Em] Entry month:1710
[Cu] Class update date: 171006
[Lr] Last revision date:171006
[Js] Journal subset:IM
[Da] Date of entry for processing:160722
[St] Status:MEDLINE
[do] DOI:10.1055/s-0042-109399

  10 / 452 MEDLINE  
              first record previous record
select
to print
Photocopy
Full text

[PMID]: 27393412
[Au] Autor:Vianey-Saban C; Acquaviva C; Cheillan D; Collardeau-Frachon S; Guibaud L; Pagan C; Pettazzoni M; Piraud M; Lamazière A; Froissart R
[Ad] Address:Service Maladies Héréditaires du Métabolisme et Dépistage Néonatal, Centre de Biologie et de Pathologie Est CHU de Lyon, Lyon, France. christine.saban@chu-lyon.fr.
[Ti] Title:Antenatal manifestations of inborn errors of metabolism: biological diagnosis.
[So] Source:J Inherit Metab Dis;39(5):611-24, 2016 Sep.
[Is] ISSN:1573-2665
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:Inborn errors of metabolism (IEMs) that present with abnormal imaging findings in the second half of pregnancy are mainly lysosomal storage disorders (LSDs), cholesterol synthesis disorders (CSDs), glycogen storage disorder type IV (GSD IV), peroxisomal disorders, mitochondrial fatty acid oxidation defects (FAODs), organic acidurias, aminoacidopathies, congenital disorders of glycosylation (CDGs), and transaldolase deficiency. Their biological investigation requires fetal material. The supernatant of amniotic fluid (AF) is useful for the analysis of mucopolysaccharides, oligosaccharides, sialic acid, lysosphingolipids and some enzyme activities for LSDs, 7- and 8-dehydrocholesterol, desmosterol and lathosterol for CSDs, acylcarnitines for FAODs, organic acids for organic acidurias, and polyols for transaldolase deficiency. Cultured AF or fetal cells allow the measurement of enzyme activities for most IEMs, whole-cell assays, or metabolite measurements. The cultured cells or tissue samples taken after fetal death can be used for metabolic profiling, enzyme activities, and DNA extraction. Fetal blood can also be helpful. The identification of vacuolated cells orients toward an LSD, and plasma is useful for diagnosing peroxisomal disorders, FAODs, CSDs, some LSDs, and possibly CDGs and aminoacidopathies. We investigated AF of 1700 pregnancies after exclusion of frequent etiologies of nonimmune hydrops fetalis and identified 108 fetuses affected with LSDs (6.3 %), 29 of them with mucopolysaccharidosis type VII (MPS VII), and six with GSD IV (0.3 %). In the AF of 873 pregnancies, investigated because of intrauterine growth restriction and/or abnormal genitalia, we diagnosed 32 fetuses affected with Smith-Lemli-Opitz syndrome (3.7 %).
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1607
[Cu] Class update date: 171018
[Lr] Last revision date:171018
[Js] Journal subset:IM
[St] Status:In-Process
[do] DOI:10.1007/s10545-016-9947-8


page 1 of 46 go to page                         
   


Refine the search
  Database : MEDLINE Advanced form   

    Search in field  
1  
2
3
 
           



Search engine: iAH v2.6 powered by WWWISIS

BIREME/PAHO/WHO - Latin American and Caribbean Center on Health Sciences Information