Anne Boney

Publications (6)22.92 Total impact

• Article: Fractures in children with Pompe disease: a potentiallong-term complication

  Laura E. Case, Rabi Hanna, Donald P. Frush, Vidya Krishnamurthy, Stephanie DeArmey, Joanne Mackey, Anne Boney, Claire Morgan, Deyanira Corzo, Susan Bouchard, Thomas J. Weber, Yuan-Tsong Chen, Priya S. Kishnani
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  ABSTRACT: BackgroundPompe disease (glycogen storage disease type II or acid maltase deficiency) is an autosomal recessive disorder caused by deficiency of the lysosomal enzyme acid α-glucosidase (GAA). Classic infantile-onset disease, characterized by cardiomegaly and profound weakness, leads to death in the first year of life from cardiorespiratory failure. Reversal of cardiomyopathy and improved motor function have been shown in clinical trials of rhGAA enzyme replacement therapy (ERT) with alglucosidase alfa (Myozyme), recently approved for clinical use. Increased survival potentially unmasks long-term complications of this previously lethal disease, including risk of skeletal fracture, recently identified at our institution and not previously reported in children with Pompe disease. ObjectiveTo report the risk of fracture in children with Pompe disease with increased survival with ERT. Materials and methodsWe present four cases of fracture in patients with classic infantile Pompe disease treated with ERT at our institution, and review a study database for additional reports of fracture in this population. ResultsWe review 19 fractures in 14 children with Pompe disease on ERT. ConclusionRadiologists should be familiar with and vigilant for the association of fractures and increased survival on ERT in children with Pompe disease. We discuss potential mechanisms, implications for radiographic surveillance, potential intervention, and needs for further research.
  Pediatric Radiology 04/2012; 37(5):437-445. · 1.67 Impact Factor
• Article: Follow-up of a child with pyruvate dehydrogenase deficiency on a less restrictive ketogenic diet.

  Areeg H El-Gharbawy, Anne Boney, Sarah P Young, Priya S Kishnani
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  ABSTRACT: A male child with X-linked pyruvate dehydrogenase deficiency presented with severe neonatal lactic acidosis. Poor compliance following initiation of the ketogenic diet justified modification to a less restrictive form which improved compliance. One year after starting the modified diet, he remained clinically stable, showing developmental progress.
  Molecular Genetics and Metabolism 02/2011; 102(2):214-5. · 3.19 Impact Factor
• Article: Glycogen storage disease type III diagnosis and management guidelines.

  Priya S Kishnani, Stephanie L Austin, Pamela Arn, Deeksha S Bali, Anne Boney, Laura E Case, Wendy K Chung, Dev M Desai, Areeg El-Gharbawy, Ronald Haller, G Peter A Smit, Alastair D Smith, Lisa D Hobson-Webb, Stephanie Burns Wechsler, David A Weinstein, Michael S Watson
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  ABSTRACT: Glycogen storage disease type III is a rare disease of variable clinical severity affecting primarily the liver, heart, and skeletal muscle. It is caused by deficient activity of glycogen debranching enzyme, which is a key enzyme in glycogen degradation. Glycogen storage disease type III manifests a wide clinical spectrum. Individuals with glycogen storage disease type III present with hepatomegaly, hypoglycemia, hyperlipidemia, and growth retardation. Those with type IIIa have symptoms related to liver disease and progressive muscle (cardiac and skeletal) involvement that varies in age of onset, rate of disease progression, and severity. Those with type IIIb primarily have symptoms related to liver disease. This guideline for the management of glycogen storage disease type III was developed as an educational resource for health care providers to facilitate prompt and accurate diagnosis and appropriate management of patients. An international group of experts in various aspects of glycogen storage disease type III met to review the evidence base from the scientific literature and provided their expert opinions. Consensus was developed in each area of diagnosis, treatment, and management. This management guideline specifically addresses evaluation and diagnosis across multiple organ systems (cardiovascular, gastrointestinal/nutrition, hepatic, musculoskeletal, and neuromuscular) involved in glycogen storage disease type III. Conditions to consider in a differential diagnosis stemming from presenting features and diagnostic algorithms are discussed. Aspects of diagnostic evaluation and nutritional and medical management, including care coordination, genetic counseling, hepatic transplantation, and prenatal diagnosis, are addressed. A guideline that will facilitate the accurate diagnosis and appropriate management of individuals with glycogen storage disease type III was developed. This guideline will help health care providers recognize patients with all forms of glycogen storage disease type III, expedite diagnosis, and minimize stress and negative sequelae from delayed diagnosis and inappropriate management. It will also help identify gaps in scientific knowledge that exist today and suggest future studies.
  Genetics in medicine: official journal of the American College of Medical Genetics 07/2010; 12(7):446-63. · 3.92 Impact Factor
• Article: Hypovitaminosis D in glycogen storage disease type I.

  Suhrad G Banugaria, Stephanie L Austin, Anne Boney, Thomas J Weber, Priya S Kishnani
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  ABSTRACT: Glycogen storage disease type I (GSD I) is caused by inherited defects of the glucose 6-phosphatase complex, resulting in fasting hypoglycemia, lactic acidosis, hyperuricemia and hyperlipidemia. Sixteen out of 26 (61.5%) GSD I patients in our study had suboptimal levels (<30 ng/ml) of 25-hydroxyvitamin-D (25(OH)D) despite supplementation of vitamin D and/or vitamin D + calcium based on WHO standards in 24/26 (92.3%) patients. The restrictive nature of the GSD I diet, metabolic derangements and intestinal malabsorption seen in GSD I are possible reasons for the observed hypovitaminosis D. Our results suggest that measurement of 25(OH)D should be considered in the routine evaluation of GSD I patients.
  Molecular Genetics and Metabolism 04/2010; 99(4):434-7. · 3.19 Impact Factor
• Source

  Available from: Suman Priya

  Article: Fractures in children with Pompe disease: a potential long-term complication.

  Laura E Case, Rabi Hanna, Donald P Frush, Vidya Krishnamurthy, Stephanie DeArmey, Joanne Mackey, Anne Boney, Claire Morgan, Deyanira Corzo, Susan Bouchard, Thomas J Weber, Yuan-Tsong Chen, Priya S Kishnani
  [show abstract] [hide abstract]
  ABSTRACT: Pompe disease (glycogen storage disease type II or acid maltase deficiency) is an autosomal recessive disorder caused by deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA). Classic infantile-onset disease, characterized by cardiomegaly and profound weakness, leads to death in the first year of life from cardiorespiratory failure. Reversal of cardiomyopathy and improved motor function have been shown in clinical trials of rhGAA enzyme replacement therapy (ERT) with alglucosidase alfa (Myozyme), recently approved for clinical use. Increased survival potentially unmasks long-term complications of this previously lethal disease, including risk of skeletal fracture, recently identified at our institution and not previously reported in children with Pompe disease. To report the risk of fracture in children with Pompe disease with increased survival with ERT. We present four cases of fracture in patients with classic infantile Pompe disease treated with ERT at our institution, and review a study database for additional reports of fracture in this population. We review 19 fractures in 14 children with Pompe disease on ERT. Radiologists should be familiar with and vigilant for the association of fractures and increased survival on ERT in children with Pompe disease. We discuss potential mechanisms, implications for radiographic surveillance, potential intervention, and needs for further research.
  Pediatric Radiology 06/2007; 37(5):437-45. · 1.67 Impact Factor
• Article: Glycogen storage disease type III-hepatocellular carcinoma a long-term complication?

  Erin Demo, Donald Frush, Marcia Gottfried, John Koepke, Anne Boney, Deeksha Bali, Y T Chen, Priya S Kishnani
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  ABSTRACT: Glycogen storage disease III (GSD III) is caused by a deficiency of glycogen-debranching enzyme which causes an incomplete glycogenolysis resulting in glycogen accumulation with abnormal structure (short outer chains resembling limit dextrin) in liver and muscle. Hepatic involvement is considered mild, self-limiting and improves with age. With increased survival, a few cases of liver cirrhosis and hepatocellular carcinoma (HCC) have been reported. A systematic review of 45 cases of GSD III at our center (20 months to 67 years of age) was reviewed for HCC, 2 patients were identified. A literature review of HCC in GSD III was performed and findings compared to our patients. GSD III patients are at risk for developing HCC. Cirrhosis was present in all cases and appears to be responsible for HCC transformation There are no reliable biomarkers to monitor for HCC in GSD III. Systematic evaluation of liver disease needs be continued in all patients, despite lack of symptoms. Development of guidelines to allow for systematic review and microarray studies are needed to better delineate the etiology of the hepatocellular carcinoma in patients with GSD III.
  Journal of Hepatology 04/2007; 46(3):492-8. · 9.26 Impact Factor