Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency - 26/07/16
, Lesa J. Beamer, PhD 2, Therese Gadomski, BS 1, Tomas Honzik, MD, PhD 3, Miski Mohamed, MD, PhD 4, Saskia B. Wortmann, MD, PhD 5, Katja S. Brocke Holmefjord, MD 6, Marit Mork, MD 6, Francis Bowling, MD, PhD 7, Jolanta Sykut-Cegielska, MD, PhD 8, Dieter Koch, MD 9, Amanda Ackermann, MD, PhD 10, Charles A. Stanley, MD 10, Daisy Rymen, MD, PhD 11, Avraham Zeharia, MD 12, Moeen Al-Sayed, MD 13, Thomas Marquardt, MD 14, Jaak Jaeken, MD, PhD 15, Dirk Lefeber, PhD 16, Donald F. Conrad, PhD 17, Tamas Kozicz, MD, PhD 1, Eva Morava, MD, PhD 1, 4Abstract |
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.
Le texte complet de cet article est disponible en PDF.Keywords : congenital disorder of glycosylation, congenital malformation, cleft palate, bifid uvula, dilated cardiomyopathy, hypoglycemia, myopathy, small stature, hormonal deficiency, coagulopathy, hepatopathy
Abbreviations : CDG, HSD, NPCRS, PC, PCA, PGM1, PGM1-CDG, PGM2, TPCRS
Plan
| Supported by the National Institute of General Medical Sciences of the National Institutes of Health (1 U54 GM104940), which funds the Louisiana Clinical and Translational Science Center. T.H. is supported by General University Hospital in Prague, Czech Republic (RVO-VFN 64165), and the Ministry of Health of the Czech Republic (MZ CR AZV 16-31932A). The authors declare no conflicts of interest. |
Vol 175
P. 130 - août 2016 Retour au numéro
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