An Assessment of Dietary Intake, Feeding Practices, Growth, and Swallowing Function in Young Children with Late-Onset Pompe Disease: A Framework for Developing Nutrition Guidelines.

Newborn screening (NBS) is leading to the diagnosis of a large number of children with late-onset Pompe disease (LOPD), yet many remain asymptomatic until later years. A high-protein, low-carbohydrate diet is recommended for adults with LOPD. Nutrition guidelines are not available for young children. Methods: 37 children with LOPD aged 1-6 years participated. Early diet history, feeding practices, and 24 h dietary intake were collected via questionnaire. Anthropometric measurements, blood creatine kinase (CK), blood urea nitrogen (BUN)/creatinine ratio, and urine glucose tetrasaccharide (Glc4) were collected at clinic visits. A subset of 19 children received a clinical feeding assessment (CFA). Results: All patients derived their nutrition orally. Breastfeeding was successfully initiated in 73% of infants. Body weight ranged between 3 and 99% and height ranged from 4 to 97%. A tendency to be overweight and obese was noted in older children with LOPD. A total of 24% of the children who had CFA were diagnosed with dysphagia that was typically mild in severity and rarely affected their ability to eat a normal diet. Limiting added sugar and processed foods was the most widely used dietary practice followed by encouraging protein. Protein intake was three-four times higher than the recommended dietary intake (RDA). A high BUN/creatinine ratio was observed in some children, which may indicate incompatibility with protein intake and need for individualizing the diet. Conclusions: The results of this study provide a framework for developing future nutrition guidelines for children with LOPD by performing an individualized assessment of dietary intake, growth, feeding/swallowing, and laboratory parameters.

Duke Scholars

Author Rebecca Koch Pediatrics, Medical Genetics

Author Priya Sunil Kishnani Pediatrics, Medical Genetics