The purpose of this study is to investigate 1) the effects of various dietary treatments on disease progression in the glycogen storage diseases (GSD), 2) the molecular basis and genotype-phenotype correlations of glycogen storage disease, 3) the mechanism and treatment of renal disease associated with type I GSD, and 4) development of recombinant enzyme replacement therapy for GSD type II. Methods: The goals of dietary treatment are to achieve maximum growth potential and/or to improve muscle strength. Patients are seen at 3 to 6 month intervals for diet evaluation, anthropomorphic measurements and serum chemistries. Muscle strength is evaluated by formal muscle testing including Cybex, by EMG, and by changes in serum enzymes (CPK, LDH an isoenzymes, SGOT, SGPT). Renal function, clearances, and factors affecting hyperfiltration are monitored with diet intervention. Changes in size and number of hepatic adenomas are evaluated at 6 month intervals by ultrasound and CT, and at 3 to 4 year intervals by liver scan. Alpha-1-Fetoprotein is determined every 6 months in patients with adenomas. Yearly echocardiograms and EKG's are performed in adults with GSD Types III and V, and in all patients with GSD Type II. Baseline data on muscle strength and EMG is obtained. Dietary instruction is given by the CRU dietitian, and the patient is re-evaluated at 3 to 6 month intervals. Skin fibroblasts and lymphoblastoid cells are obtained from GSD Type III patients for analysis of debrancher enzyme activity, antibody-reactive materials, and DNA levels.
| Askie, Lisa M; Darlow, Brian A; Finer, Neil et al. (2018) Association Between Oxygen Saturation Targeting and Death or Disability in Extremely Preterm Infants in the Neonatal Oxygenation Prospective Meta-analysis Collaboration. JAMA 319:2190-2201 |
| Srinivasan, Lakshmi; Page, Grier; Kirpalani, Haresh et al. (2017) Genome-wide association study of sepsis in extremely premature infants. Arch Dis Child Fetal Neonatal Ed 102:F439-F445 |
| Denson, Lee A; McDonald, Scott A; Das, Abhik et al. (2017) Early Elevation in Interleukin-6 is Associated with Reduced Growth in Extremely Low Birth Weight Infants. Am J Perinatol 34:240-247 |
| James, Jennifer; Munson, David; DeMauro, Sara B et al. (2017) Outcomes of Preterm Infants following Discussions about Withdrawal or Withholding of Life Support. J Pediatr 190:118-123.e4 |
| Younge, Noelle; Goldstein, Ricki F; Bann, Carla M et al. (2017) Survival and Neurodevelopmental Outcomes among Periviable Infants. N Engl J Med 376:617-628 |
| Phelps, Dale L; Ward, Robert M; Williams, Rick L et al. (2016) Safety and pharmacokinetics of multiple dose myo-inositol in preterm infants. Pediatr Res 80:209-17 |
| Archer, Stephanie Wilson; Carlo, Waldemar A; Truog, William E et al. (2016) Improving publication rates in a collaborative clinical trials research network. Semin Perinatol 40:410-417 |
| Ahmed, Zuhayer; Prasad, Indrajit; Rahman, Hafizur et al. (2016) A Male with Extreme Subcutaneous Insulin Resistance: A Case Report. Rom J Diabetes Nutr Metab Dis 23:209-213 |
| Barroso, Julie; Leserman, Jane; Harmon, James L et al. (2015) Fatigue in HIV-Infected People: A Three-Year Observational Study. J Pain Symptom Manage 50:69-79 |
| Stafford-Smith, Mark; Li, Yi-Ju; Mathew, Joseph P et al. (2015) Genome-wide association study of acute kidney injury after coronary bypass graft surgery identifies susceptibility loci. Kidney Int 88:823-32 |
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