Expanded Newborn Screening: The Nutrition Perspective

Expanded Newborn Screening: The Nutrition Perspective
By:Beth Ogata, MS, RD

Nutrition Involvement in NBS
* Policy
* Diagnostic/coordination
* Clinical
* Community
Example: infant with galactosemia
* Symptoms in newborn, if untreated
o Vomiting, diarrhea
o Hyperbilirubinemia, hepatic dysfunction, hepatomegaly
o Renal tubular dysfunction
o Cataracts
o Encephalopathy
o E. coli septicemia result
o Death within 6 weeks, if untreated
o Duarte variant
o galactokinase deficiency
o uridine diphosphate-galactose-4-epimerase deficiency
Galactose-1-phosphate uridyl transferase (GALT) deficiency
Example: infant with galactosemia
* Primary source is milk (lactose= galactose + glucose)
* Secondary sources are legumes
* Minor? sources are fruits and vegetables
* Food labels
o milk, casein, milk solids, lactose, whey, hydrolyzed protein, lactalbumin, lactostearin, caseinate
* Medications (lactose is often an inactive ingredient)
* Dietary supplements
* Artificial sweeteners
Monitoring: galactose-1-phosphate levels <3-4 mg/dl
Treatment: eliminate all galactose from diet

Example: Infant with galactosemia
DIAGNOSIS & COOORDINATION
CLINICAL MANAGEMENT
RD as case manager
Nutrition and NBS: Policy
Nutrition and NBS: Clinical Management – PKU
* Phenylketonuria
o Phenylalanine hydroxylase
o Dihydropteridine reductase
o Biopterin synthetase
* Establish diagnosis
o Presumptive positive NBS results
+ > 3 mg/dL, >24 hrs of age
o Differential diagnosis
+ serum phe, nl tyr
+ r/o DHPR, biopterin defects

Current Treatment Guidelines
* With effective NBS, children are identified by 7 days of age
* Initiate treatment immediately
* Maintain phe levels 1-6 mg/dl (60-360 umol/L)
* Lifelong treatment
Outcome Expectations
Clinical Management: PKU
Goals of Nutrition Therapy
* Normal growth rate
* Normal physical development
* Normal cognitive development
* Normal nutritional status
* Correct substrate imbalance
* Supply product of reaction
o Supplement tyrosine to
Goals of Nutrition Support for Phenylketonuria (PKU)
Interpretation of phenylalanine levels
Adjustments necessary to maintain “safe” blood phe levels
Management Tools
Formula Composition
* Regulated by FDA
o Renal solute load
o Carbohydrate source
o Fat source
o Amino acid source
o Vitamin and mineral content
* Designated by clinician
o Protein/energy ratio
o Specific amino acid
o Fluid balance
o Total protein
o Total energy
Effect of a single amino acid deficiency on growth
Food Choices for PKU
Tools of Management: Low protein food products
Typical Food Pattern for a Child with PKU
Monitoring Adequacy of Treatment
Effective Blood Level Management in Childhood
Self-management Skills
Goal of Lifetime Management of PKU
Maternal PKU Concerns/Outcomes
Nutrition and NBS: Community – Glutaric Acidemia, type I
Glutaryl-CoA dehydrogenase deficiency
Example: Infant with GAI
Nutrition and NBS: Community
The baby has a “positive PKU test
Critical Questions about Follow-up and Coordination of Treatment
What you need to know
Caveats to Ponder

Expanded Newborn Screening: The Nutrition Perspective.ppt