Phenylketonuria
Conditions
Keywords
Phenylketonuria, PKU, Phenylalanine metabolism, Protein requirements, Indicator Amino acid Oxidation, Stable isotopes
Brief summary
Phenylketonuria (PKU) is an inherited inborn error of an amino acid phenylalanine (PHE) metabolism affecting 1:15,000 births. It is caused by a decreased activity of an enzyme in the liver called phenylalanine hydroxylase (PAH) which is important to convert PHE into tyrosine, another amino acid. Consequently, PHE accumulates in the blood leading to mental and developmental delays. Nutritional management is the primary choice of treatment that includes providing sufficient protein in the diet and at the same time restricting PHE. However the amount of protein to be given is unknown. A new technique called Indicator Amino Acid Oxidation (IAAO) will be used to determine the protein requirements in children with PKU (5-18y). The study will help treat and manage these children with sufficient protein to ensure proper growth and development. Current dietary recommendations range from 35-65 g/day and is based on factorial calculations. The investigators hypothesize that the protein requirement in children with PKU will be higher than the current mathematically calculated recommended intake of 35-65 g/day for the 5-18y children.
Interventions
DIETARY_SUPPLEMENTProtein intake
Oral consumption of eight hourly experimental meals- * 4 tracer free experimental meals containing a mixture of free amino acids and calories from protein free flavored liquid, protein free cookies and corn oil * 4 isotopically labeled experimental meals.
Sponsors
Rare Disease Foundation, Vancouver, Canada
Saudi Arabian Cultural Bureau, Ottawa
University of British Columbia
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
SUPPORTIVE_CARE
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
5 Years to 18 Years
Healthy volunteers
No
Inclusion criteria
* Children (5-18y) who are diagnosed with Phenylketonuria (PKU), and clinically stable with no acute illness
Exclusion criteria
* Children less than 5y of age and who are diagnosed with PKU, as it may be difficult to take breath samples and perform indirect calorimetry in very young children. * Children diagnosed with PKU, but are currently ill, with a fever, cold, vomiting or diarrhea.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 13 Co2 production | 8 hours (1 study day) | Urine and breath samples will be collected during the study to measure the rate of oxidation of tracer in the expired breath and flux enrichment in urine. |
Countries
Canada
Outcome results
None listed