keyword
MENU ▼
Read by QxMD icon Read
search

Glycogenosis

keyword
https://www.readbyqxmd.com/read/29752652/disruption-of-the-responsible-gene-in-a-phosphoglucomutase-1-deficiency-patient-by-homozygous-chromosomal-inversion
#1
Katsuyuki Yokoi, Yoko Nakajima, Tamae Ohye, Hidehito Inagaki, Yoshinao Wada, Tokiko Fukuda, Hideo Sugie, Isao Yuasa, Tetsuya Ito, Hiroki Kurahashi
Phosphoglucomutase 1 (PGM1) deficiency is a recently defined disease characterized by glycogenosis and a congenital glycosylation disorder caused by recessive mutations in the PGM1 gene. We report a case of a 12-year-old boy with first-cousin parents who was diagnosed with a PGM1 deficiency due to significantly decreased PGM1 activity in his muscle. However, Sanger sequencing revealed no pathogenic mutation in the PGM1 gene in this patient. As this case presented with a cleft palate in addition to hypoglycemia and elevated transaminases and creatine kinase, karyotyping was performed and identified homozygous inv(1)(p31...
May 12, 2018: JIMD Reports
https://www.readbyqxmd.com/read/29709217/glycogenic-hepatopathy
#2
Johad Khoury, Yaniv Zohar, Naim Shehadeh, Tarek Saadi
BACKGROUND: Glycogenic hepatopathy (GH) is a disorder associated with uncontrolled diabetes mellitus, most commonly type 1, expressed as right upper quadrant abdominal pain, hepatomegaly and increased liver enzymes. The diagnosis may be difficult, because laboratory and imaging tests are not pathognomonic. Although GH may be suggested based on clinical presentation and imaging studies, the gold standard for diagnosis is a liver biopsy, showing a significant accumulation of glycogen within the hepatocytes...
April 2018: Hepatobiliary & Pancreatic Diseases International: HBPD INT
https://www.readbyqxmd.com/read/29687227/high-resolution-ct-findings-of-pulmonary-interstitial-glycogenosis
#3
Jason P Weinman, Christina J White, Deborah R Liptzin, Robin R Deterding, Csaba Galambos, Lorna P Browne
BACKGROUND: Pulmonary interstitial glycogenosis is a form of childhood interstitial lung disease characterized by the histological finding of abundant glycogen-laden mesenchymal cells within the pulmonary interstitium. Patients present in the neonatal period with disproportionate respiratory distress. Often, pulmonary interstitial glycogenosis is accompanied by alveolar simplification complicating recognition and diagnosis. Despite the recognition of pulmonary interstitial glycogenosis as a distinct entity, only a few case reports describing imaging findings are found in the literature, with no published systematic review available...
April 23, 2018: Pediatric Radiology
https://www.readbyqxmd.com/read/29435968/-a-new-phenotype-of-infantile-onset-pompe-disease
#4
A Nascimento, E Villalobos-Pinto
INTRODUCTION: Infantile-onset Pompe disease is a kind of glycogenosis resulting from a deficit of the enzyme acid alpha-glucosidase. Before specific enzyme replacement therapy (ERT) became available, the classic form was fatal during the first two years of life. ERT increases survival and improves cardiac, respiratory and motor functioning. CASE REPORTS: Case 1: 2-month-old infant with predominantly axial hypotonia who required the use of a nasogastric tube as a result of difficulties in sucking and swallowing...
February 16, 2018: Revista de Neurologia
https://www.readbyqxmd.com/read/29371640/clinical-utility-gene-card-for-mcardle-disease
#5
Rhonda L Taylor, Mark Davis, Emma Turner, Astrid Brull, Tomás Pinos, Macarena Cabrera, Kristen J Nowak
Name of the disease (synonyms) McArdle disease (glycogenosis type V; glycogen storage disease V (GSDV); PYGM deficiency; muscle glycogen phosphorylase deficiency; myophosphorylase deficiency). OMIM# of the disease #232600. Name of the analysed genes or DNA/chromosome segments Muscle glycogen phosphoryalse (PYGM). OMIM# of the gene(s) #608455.Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for variants in the PYGM gene(s) in⊠ diagnostic,⊠ predictive and⊠ prenatal settings and for⊠ risk assessment in relatives...
January 25, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29336713/persistent-pulmonary-hypertension-without-underlying-cardiac-disease-as-a-presentation-of-pulmonary-interstitial-glycogenosis
#6
Gordon Gray Still, Shuo Li, Mark Wilson, Paul Sammut
INTRODUCTION: Pulmonary interstitial glycogenosis (PIG) is an idiopathic lung condition that remains clinically underrecognized despite a growing body of literature. CASE REPORT: We present a case of PIG with pulmonary hypertension without underlying cardiac disease. This patient presented with respiratory distress and spontaneous pneumothorax at 6 months of age. Laboratory and imaging investigations demonstrated nonspecific features, but refractory pulmonary hypertension was confirmed on cardiac catheterization...
February 2018: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/29240010/well-preserved-renal-function-in-children-with-untreated-chronic-liver-disease
#7
Ulla B Berg, Antal Németh
OBJECTIVES: On the basis of studies with hepatorenal syndrome, it is widely regarded that renal function is impacted in chronic liver disease (CLD). Therefore, we investigated renal function in children with CLD. METHODS: In a retrospective study of 277 children with CLD, renal function was investigated as glomerular filtration rate (GFR) and effective renal plasma flow (ERPF), measured as clearance of inulin and para-amino hippuric acid or clearance of iohexol...
April 2018: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/29036338/high-prevalence-of-arrhythmic-and-myocardial-complications-in-patients-with-cardiac-glycogenosis-due-to-prkag2-mutations-authors-reply
#8
Pascale Richard, Flavie Ader
No abstract text is available yet for this article.
September 23, 2017: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/29036308/high-prevalence-of-arrhythmic-and-myocardial-complications-in-patients-with-cardiac-glycogenosis-due-to-prkag2-mutations-comment
#9
Jie Qiu, Tao Tu, Shenghua Zhou, Qiming Liu
No abstract text is available yet for this article.
September 23, 2017: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/28937487/focal-hepatic-glycogenosis-in-a-patient-with-uncontrolled-diabetes-mellitus-type-1
#10
Tetiana Glushko, Sergiy V Kushchayev, Dmitry Trifanov, Aliaksei Salei, Diego Morales, Gerard Berry, Justin Mackey, Oleg M Teytelboym
Hepatomegaly and elevated liver enzymes in patients with diabetes are commonly associated with fatty liver disease. However, physicians often forget about another intrinsic substance that can cause a similar clinical picture-glycogen. Liver stores approximately one third of the total body glycogen and is responsible for blood glucose homeostasis. Excessive hepatocellular glycogen accumulation occurs not only in congenital glycogen storage diseases, but also in acquired conditions associated with hyperglycemic-hyperinsulinemic states such as uncontrolled diabetes mellitus, high-dose corticosteroid use, and dumping syndrome...
September 20, 2017: Journal of Computer Assisted Tomography
https://www.readbyqxmd.com/read/28914857/-characteristics-of-lipid-metabolism-and-the-cardiovascular-system-in-glycogenosis-types-i-and-iii
#11
REVIEW
N V Polenova, T V Strokova, A V Starodubova
Glycogen storage disease (GSD) is an inherited metabolic disorder characterized by early childhood lipid metabolic disturbances with potentially proatherogenic effects. The review outlines the characteristics of impaired lipid composition and other changes in the cardiovascular system in GSD types I and III. It analyzes the factors enabling and inhibiting the development of atherosclerosis in patients with GSD. The review describes the paradox of vascular resistance to the development of early atherosclerosis despite the proatherogenic composition of lipids in the patients of this group...
2017: Terapevticheskiĭ Arkhiv
https://www.readbyqxmd.com/read/28873355/pulmonary-interstitial-glycogenosis-associated-with-a-spectrum-of-neonatal-pulmonary-disorders
#12
Ernest Cutz, Rose Chami, Sharon Dell, Jacob Langer, David Manson
Primary or isolated pulmonary interstitial glycogenosis (PIG) is a rare disease presenting as tachypnea and hypoxemia during the perinatal period. A diffuse interstitial infiltrate with focal hyperinflation is visible on chest imaging. The biopsy findings include diffuse expansion of the interstitium by spindle-shaped cells with pale cytoplasm that, on electron microscopy (EM), are poorly differentiated mesenchymal cells containing abundant monoparticulate glycogen. This glycogenosis appears to be a transient abnormality, usually with a favorable prognosis...
October 2017: Human Pathology
https://www.readbyqxmd.com/read/28794993/limitations-of-galactose-therapy-in-phosphoglucomutase-1-deficiency
#13
Kristine Nolting, Julien H Park, Laura C Tegtmeyer, Andrea Zühlsdorf, Marianne Grüneberg, Stephan Rust, Janine Reunert, Ingrid Du Chesne, Volker Debus, Eric Schulze-Bahr, Robert C Baxter, Yoshinao Wada, Christian Thiel, Emile van Schaftingen, Ralph Fingerhut, Thorsten Marquardt
INTRODUCTION: Phosphoglucomutase 1 deficiency (PGM1 deficiency) has been identified as both, glycogenosis and congenital disorder of glycosylation (CDG). The phenotype includes hepatopathy, myopathy, oropharyngeal malformations, heart disease and growth retardation. Oral galactose supplementation at a dosage of 1 g per kg body weight per day is regarded as the therapy of choice. RESULTS: We report on a patient with a novel disease causing mutation, who was treated for 1...
December 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28770119/first-report-on-fetal-cerebral-polyglucosan-bodies-in-mucopolysaccharidosis-type-vii
#14
Hazim Kadhim, Valérie Segers, Catheline Vilain, Julie Désir, Nicky D'Haene
We report on the detection of discordant inclusions in the brain of a 25-week female fetus with a very rare lysosomal storage disease, namely, Sly disease (mucopolysaccharidosis (MPS) type VII), presenting with nonimmune hydrops fetalis. Besides vacuolated neurons, we found abundant deposition of polyglucosan bodies (PGBs) in the developing brain of this fetus in whom MPS-VII was corroborated by lysosomal beta-glucuronidase-deficiency detected in fetal blood and fetal skin-fibroblasts and by the presence of a heterozygous pathogenic variant in the GUSB gene in the mother...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28737584/update-on-new-muscle-glycogenosis
#15
Pascal Laforêt, Edoardo Malfatti, John Vissing
PURPOSE OF REVIEW: The field of muscle glycogenoses has progressed in recent years by the identification of new disorders, and by reaching a better understanding of pathophysiology of the disorders and the physiology of glycogen metabolism. RECENT FINDINGS: In this review, we describe the clinical and pathological features of the three most recently described muscle glycogenoses caused by recessive mutations in GYG1, RBCK1 and PGM1. The three involved enzymes play different roles in glycogen metabolism...
October 2017: Current Opinion in Neurology
https://www.readbyqxmd.com/read/28659124/cataract-and-optic-disk-drusen-in-a-patient-with-glycogenosis-and-di-george-syndrome-clinical-and-molecular-report
#16
D Allegrini, S Penco, A Pece, A Autelitano, G Montesano, S Paci, C Montanari, A Maver, B Peterlin, G Damante, L Rossetti
BACKGROUND: We report the ophthalmic findings of a patient with type Ia glycogen storage disease (GSD Ia), DiGeorge syndrome (DGS), cataract and optic nerve head drusen (ONHD). CASE PRESENTATION: A 26-year-old white woman, born at term by natural delivery presented with a post-natal diagnosis of GSD Ia. Genetic testing by array-comparative genomic hybridization (CGH) for DGS was required because of her low levels of serum calcium. The patient has been followed from birth, attending the day-hospital every six months at the San Paolo Hospital, Milan, outpatient clinic for metabolic diseases and previously at another eye center...
June 28, 2017: BMC Ophthalmology
https://www.readbyqxmd.com/read/28625068/hepatic-glycogenosis-a-diagnostic-challenge
#17
Diana Horta, Maria-Rosa Escoda, Luigi Melcarne
Recently, several cases of hepatic glycogenosis (HG) have been reported. García-Suárez et al. described a young female patient with poorly controlled type 1 diabetes, right upper quadrant pain and elevated serum transaminases and GGT. After other causes of liver disease were excluded and a liver biopsy was performed, the patient was diagnosed with HG. HG is rare and can be misdiagnosed as steatohepatitis. To date, less than 20 cases have been reported in adults.
June 19, 2017: Revista Española de Enfermedades Digestivas
https://www.readbyqxmd.com/read/28494553/-glycogenosis-type-ix-caused-by-a-novel-mutation-of-phosphorylase-kinase-%C3%AE-subunit-a-family-analysis
#18
M H Zhang, H J Wang, P Zhang, J Y Gong, J S Wang
No abstract text is available yet for this article.
April 20, 2017: Zhonghua Gan Zang Bing za Zhi, Zhonghua Ganzangbing Zazhi, Chinese Journal of Hepatology
https://www.readbyqxmd.com/read/28490439/skeletal-muscle-metabolism-during-prolonged-exercise-in-pompe-disease
#19
Nicolai Preisler, Pascal Laforêt, Karen Lindhardt Madsen, Edith Husu, Christoffer Rasmus Vissing, Gitte Hedermann, Henrik Galbo, Christopher Lindberg, John Vissing
OBJECTIVE: Pompe disease (glycogenosis type II) is caused by lysosomal alpha-glucosidase deficiency, which leads to a block in intra-lysosomal glycogen breakdown. In spite of enzyme replacement therapy, Pompe disease continues to be a progressive metabolic myopathy. Considering the health benefits of exercise, it is important in Pompe disease to acquire more information about muscle substrate use during exercise. METHODS: Seven adults with Pompe disease were matched to a healthy control group (1:1)...
August 2017: Endocrine Connections
https://www.readbyqxmd.com/read/28444756/e7-1057%C3%AE-ta-mutation-of-the-acidic-%C3%AE-glucosidase-gene-causes-pompe-s-disease-in-droughtmaster-cattle
#20
R E Lyons, D J Johnston, M R McGowan, A Laing, B Robinson, H Owen, B D Hill, B M Burns
OBJECTIVE: To determine whether known loss-of-function alleles of the acidic α-glucosidase gene (GAA) are present in the Droughtmaster breed and, if so, whether the clinical signs and pathology of generalised glycogenosis (Pompe's disease) previously reported in other affected cattle are also seen in homozygous Droughtmasters. DESIGN: Existing genomic and other diagnostic tests developed for generalised glycogenosis in cattle were used to test for the presence of the three known loss-of-function alleles of GAA in a herd of Droughtmaster cattle...
May 2017: Australian Veterinary Journal
keyword
keyword
50494
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"