Overview of Metabolic Disorders WITH WIC FOCUS Becky J Whitt e - - PowerPoint PPT Presentation
Overview of Metabolic Disorders WITH WIC FOCUS Becky J Whitt e more, FNP-BC MN, MPH Learning Objectives Describe general metabolic disorders and the resulting nutritional needs Explain appropriate guidance of WIC foods for specific
Becky J Whittemore, FNP-BC MN, MPH
formulary
Food that is not broken down properly may produce chemicals that build up in Food that is not broken down properly may produce chemicals that build up in Food that is not broken down properly may produce chemicals that build up in various parts of the body, causing medical problems and learning problems various parts of the body, causing medical problems and learning problems various parts of the body, causing medical problems and learning problems various parts of the body, causing medical problems and learning problems
Missing or defective enzymes (proteins) necessary to metabolize food Missing or defective enzymes (proteins) necessary to metabolize food Missing or defective enzymes (proteins) necessary to metabolize food
Each parent is a “carrier” of a non Each parent is a “carrier” of a non Each parent is a “carrier” of a non-
working trait that is passed to the child working trait that is passed to the child working trait that is passed to the child
Protein Disorders
Disease
Aciduria
Carbohydrate Disorders
Fatty Acid Disorders
Dehydrogenase Deficiency
Dehydrogenase Deficiency
Dehydrogenase Deficiency
Notify Primary Care Provider Notify Primary Care Provider Notify Primary Care Provider
Recommend intervention Recommend intervention Recommend intervention
Infant and family notified and diagnostic testing completed Infant and family notified and diagnostic testing completed Infant and family notified and diagnostic testing completed
Accumulation of toxic substance? Restrict amount available Restrict amount available Restrict amount available Restrict amount available Absence of important product? Supplement product or co Supplement product or co Supplement product or co Supplement product or co-
factor factor factor Both? Combine approaches Combine approaches Combine approaches Combine approaches
Acute/emergency management Acute/emergency management Acute/emergency management
Long term management Long term management Long term management
Maintain biochemical balance Maintain biochemical balance Maintain biochemical balance
Careful monitoring to ensure adequate nutrition (protein and Careful monitoring to ensure adequate nutrition (protein and Careful monitoring to ensure adequate nutrition (protein and calories) for growth and development calories) for growth and development calories) for growth and development calories) for growth and development
Support social and emotional development Support social and emotional development Support social and emotional development
Early diagnosis is critical for success
Excess phenylalanine as mutation in phenylalanine Excess phenylalanine as mutation in phenylalanine Excess phenylalanine as mutation in phenylalanine hydroxalase hydroxalase hydroxalase hydroxalase
Deficiency of tyrosine Deficiency of tyrosine Deficiency of tyrosine
Deficiency of neurotransmitters dopamine and norepinephrine Deficiency of neurotransmitters dopamine and norepinephrine Deficiency of neurotransmitters dopamine and norepinephrine
Infants Infants Infants
formula
Children Children Children
natural foods
growth using phe-free metabolic formula plus dietary restrictions and/or low protein products
carbohydrates, vitamins and minerals
Early diagnosis is critical for success
Excess Excess Excess arginosuccinic arginosuccinic arginosuccinic arginosuccinic acid acid acid acid
Excess ammonia Excess ammonia Excess ammonia
Infants Infants Infants
formula
Children Children Children
protein tolerance
protein metabolic formula plus dietary restrictions and/or low protein products
Early diagnosis is critical
Excess Excess Excess 3OH 3OH 3OH 3OH Propinate Propinate Propinate Propinate
Excess Glycine Excess Glycine Excess Glycine
Early diagnosis is critical for success
Infants Infants Infants
formula
Children Children Children
Early diagnosis is critical for success
Stores excessive amount glycogen in liver Stores excessive amount glycogen in liver Stores excessive amount glycogen in liver
Hypoglycemic Hypoglycemic Hypoglycemic
glucose, fructose intake
Early diagnosis is critical for success
Deficiency Deficiency Deficiency of
enzyme to breakdown Medium Chain Fats enzyme to breakdown Medium Chain Fats enzyme to breakdown Medium Chain Fats
every 6 hours)
Two Dietitians: Sandy Van Calcar (503) 494-5500 Joyanna Hansen (503) 494-4263 Nurse Practitioner
Becky Whittemore (503) 494-2776 whittemb@ohsu.edu GENERAL NUMBER (503) 494-7859
Coordination of Care Needs Learning Needs Specific Disorders Specific Diet Discussion Other
Rice, G. M., & Steiner, R. 2016. Inborn Errors of Metabolism (Metabolic
Disorders). Pediatrics in Review, (37), 3-17.
An Introduction to Metabolic Disorders at www.emdn-
mitonet.co.uk/PDF/12-metabolic.pdf
Saudubray, J. M., van den Berghe, G., & Walter, J. H. (Eds.). 2012. Inborn
Metabolic Diseases, 5th Ed., Heidelberg, Germany: Springer.
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