Phenylketonuria
Conditions
Keywords
mild PKU, Y414C, 5,6,7,8-tetrahydrobiopterin, BH4, treatment without protein restriction
Brief summary
The main purpose is to test whether treatment with BH4-tablets can replace the protein restrictive diet in patients with mild PKU caused by a certain frequent mutation.
Detailed description
PKU, phenylketonuria, is a rare, inherited metabolic disorder that results in mental retardation if not a very strict low-protein diet is started within the first weeks of life. The conversion of phenylalanine, phe, to tyrosine is defect, phe accumulates, leading to brain damage. There are different degrees of severity, reflecting the spectrum of mutant genes. BH4, tetrahydrobiopterin, is a co-enzym for the conversion of phe to tyrosine. It is known that BH4 can lower phe in some patients with milder forms of PKU. The main purpose is to test whether treatment with oral BH4 can replace the protein restrictive diet in patients with mild PKU caused by the frequent mutation Y414C in the phenylalanine hydroxylase gene.
Interventions
DRUG5,6,7,8-tetrahydrobiopterin
Sponsors
Sygekassernes Helsefond
The Kennedy Institute-National Eye Clinic
Study design
Allocation
NON_RANDOMIZED
Intervention model
SINGLE_GROUP
Primary purpose
TREATMENT
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
8 Years to No maximum
Healthy volunteers
No
Inclusion criteria
Diagnosed mild PKU with 2 known mutations in the PAH gene, hereof at least one Y414C From the age of eight Informed consent -
Exclusion criteria
Less than 8 years of age Pregnancy or treated with the intensive diet of pregnancy \-
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Fasting S-phenylalanine at day 0, 1, 2, 5, 7 in each week of treatment with BH4. | — |
Countries
Denmark
Outcome results
None listed