Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency
| العنوان: | Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency |
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| المؤلفون: | Katja S. Brocke Holmefjord, Tomas Honzik, Jaak Jaeken, Lesa J. Beamer, Daisy Rymen, Tamas Kozicz, Dieter Koch, Francis Bowling, Jolanta Sykut-Cegielska, Marit Mork, Thomas Marquardt, Moeen Al-Sayed, Therese Gadomski, Sunnie Yan-Wai Wong, Saskia B. Wortmann, Avraham Zeharia, Dirk Lefeber, Amanda M. Ackermann, Eva Morava, Donald F. Conrad, Miski Mohamed, Charles A. Stanley |
| المصدر: | Journal of Pediatrics, 175, pp. 130-136.e8 Journal of Pediatrics, 175, 130-136.e8 |
| سنة النشر: | 2016 |
| مصطلحات موضوعية: | Adult, Genetic Markers, Male, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Pathology, Adolescent, Genotype, Stress-related disorders Donders Center for Medical Neuroscience [Radboudumc 13], Physical examination, Severity of Illness Index, Young Adult, 03 medical and health sciences, Rating scale, Internal medicine, Scoring algorithm, Severity of illness, medicine, Humans, Young adult, Child, Physical Examination, Principal Component Analysis, medicine.diagnostic_test, business.industry, Regression analysis, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Glycogen Storage Disease, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Phenotype, 030104 developmental biology, Phosphoglucomutase, Child, Preschool, Mutation, Pediatrics, Perinatology and Child Health, Regression Analysis, Female, business, Algorithms |
| الوصف: | Contains fulltext : 167712.pdf (Publisher’s version ) (Closed access) OBJECTIVE: To define phenotypic groups and identify predictors of disease severity in patients with phosphoglucomutase-1 deficiency (PGM1-CDG). STUDY DESIGN: We evaluated 27 patients with PGM1-CDG who were divided into 3 phenotypic groups, and group assignment was validated by a scoring system, the Tulane PGM1-CDG Rating Scale (TPCRS). This scale evaluates measurable clinical features of PGM1-CDG. We examined the relationship between genotype, enzyme activity, and TPCRS score by using regression analysis. Associations between the most common clinical features and disease severity were evaluated by principal component analysis. RESULTS: We found a statistically significant stratification of the TPCRS scores among the phenotypic groups (P < .001). Regression analysis showed that there is no significant correlation between genotype, enzyme activity, and TPCRS score. Principal component analysis identified 5 variables that contributed to 54% variance in the cohort and are predictive of disease severity: congenital malformation, cardiac involvement, endocrine deficiency, myopathy, and growth. CONCLUSIONS: We established a scoring algorithm to reliably evaluate disease severity in patients with PGM1-CDG on the basis of their clinical history and presentation. We also identified 5 clinical features that are predictors of disease severity; 2 of these features can be evaluated by physical examination, without the need for specific diagnostic testing and thus allow for rapid assessment and initiation of therapy. |
| وصف الملف: | application/pdf |
| تدمد: | 0022-3476 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae842651bfeea383a15847741cb79cd6 https://hdl.handle.net/2066/167712 |
| Rights: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....ae842651bfeea383a15847741cb79cd6 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 00223476 |
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