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https://dora.health.qld.gov.au/qldresearchjspui/handle/1/3424| Title: | International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up | Authors: | Péanne, R. de Lonlay, P. Dos Reis, V. Ferreira, C. R. Fiumara, A. Francisco, R. Freeze, H. Funke, S. Gardeitchik, T. Gert, M. Girad, M. Giros, M. Grünewald, S. Hernández-Caselles, T. Honzik, T. Hutter, M. Krasnewich, D. Lam, C. Lee, J. Lefeber, D. Marques-da-Silva, D. Martinez, A. F. Moravej, H. Õunap, K. Pascoal, C. Pascreau, T. Patterson, M. Quelhas, D. Raymond, K. Sarkhail, P. Schiff, M. Seroczyńska, M. Serrano, M. Seta, N. Sykut-Cegielska, J. Thiel, C. Tort, F. Vals, M. A. Videira, P. Witters, P. Zeevaert, R. Morava, E. Altassan, R. de la Morena-Barrio, M. E. Jaeken, J. Barone, R. Bidet, M. Borgel, D. Brasil, S. Cassiman, D. Cechova, A. Coman, D. Corral, J. Correia, J. |
Issue Date: | 2019 | Source: | 42, (1), 2019, p. 5-28 | Pages: | 5-28 | Journal: | Journal of Inherited Metabolic Disease | Abstract: | Phosphomannomutase 2 (PMM2-CDG) is the most common congenital disorder of N-glycosylation and is caused by a deficient PMM2 activity. The clinical presentation and the onset of PMM2-CDG vary among affected individuals ranging from a severe antenatal presentation with multisystem involvement to mild adulthood presentation limited to minor neurological involvement. Management of affected patients requires a multidisciplinary approach. In this article, a systematic review of the literature on PMM2-CDG was conducted by a group of international experts in different aspects of CDG. Our managment guidelines were initiated based on the available evidence-based data and experts' opinions. This guideline mainly addresses the clinical evaluation of each system/organ involved in PMM2-CDG, and the recommended management approach. It is the first systematic review of current practices in PMM2-CDG and the first guidelines aiming at establishing a practical approach to the recognition, diagnosis and management of PMM2-CDG patients.L6268349072019-03-27 | DOI: | 10.1002/jimd.12024 | Resources: | https://www.embase.com/search/results?subaction=viewrecord&id=L626834907&from=exporthttp://dx.doi.org/10.1002/jimd.12024 | | Keywords: | peroperative care;persistent hyperinsulinemic hypoglycemia of infancy;phosphomannomutase 2 congenital disorders of glycosylation;practice guideline;prenatal period;prevalence;respiratory tract infection;review;scoliosis;seizure;short stature;strabismus;systematic review;vitamin supplementation;prenatal diagnosis;hearing aidantibiotic agent;anticoagulant agent;carbamazepine;diazoxide;glucose;immunoglobulin;levetiracetam;levothyroxine;oxcarbazepine;phosphomannomutase;protein phosphomannomutase 2;unclassified drug;valproic acid;aging;anticoagulant therapy;antithrombin deficiency;ataxia;biochemical analysis;biochemistry;blood clotting disorder;cerebrovascular accident;clinical evaluation;clinical practice;cognitive defect;congenital disorder of glycosylation;congenital malformation;diarrhea;diet supplementation;dietary intake;differential diagnosis;disease association;disease severity;disease surveillance;disorders of mitochondrial functions;dysarthria;enteric feeding;enzymatic assay;evidence based practice;false positive result;feeding difficulty;follow up;gastrointestinal infection;genotype phenotype correlation;growth disorder;health care management;health care quality;hearing impairment;hormone substitution;human;hypocholesterolemia;hypoglycemia;hypothyroidism;immunopathology;kidney hypertrophy;kidney polycystic disease;kyphoscoliosis;laboratory test;liver failure;neurologic disease;orthopedic surgery;osteopenia;osteoporosis;pathogenesis;pericardial effusion;pericarditis;peripheral neuropathy | Type: | Article |
| Appears in Sites: | Children's Health Queensland Publications Queensland Health Publications |
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