phenylketonuria, PKU, Phenylalanine hydroxylase deficiency , PAH-deficiency phenylketonuria
Conditions
Interventions
BreastfeedingTechnique 1: a measured volume of a Phe- free infant formula is given before each breast feed to partially satisfy the infant. This is the same for each feed throughout the day. The exact
blood Phe concentrations. This technique is commonly used in the UK for over 40 years and is also used in one of the participating centers of the Netherlands. 
Technique 2: breastfeeding is given alternately with the Phe-free infant formula. For example, the infant drinks from the breast at 07:00 in the morning and will have a bottle of phenylalanine-free in
Sponsors
Universitair Medisch Centrum Groningen
Eligibility
Age
No minimum to 1 Years
Inclusion criteria
Inclusion criteria: A positive new-born screening for PKU, confirmed by the metabolic laboratory of the participating center.
Exclusion criteria
Exclusion criteria: Premature newborns as pre-term human milk differs from a term human milk. Infants with the differential diagnosis BH4 deficiencyInfants of mothers with PKUInfants treated with sapropterin
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Number and percentage of blood Phe levels within target levels (120-360µmol/l). Growth data. Weight/age and length/age will be expressed in Z-scores. | — |
Secondary
| Measure | Time frame |
|---|---|
| Comparison of the composition of breastmilk between the two breast-feeding techniques (pre-measured technique vs. alternating technique) at different stages of lactation. Amino acid content (including Phe) and fat content will be reported. | — |
Countries
Netherlands, United Kingdom
Contacts
Public ContactAMJ Wegberg
Universitair Medisch Centrum Groningen
Outcome results
None listed