UCD
Conditions
Interventions
one day food diary
and
a one time stool (feces) sample
Sponsors
AMC
Eligibility
Inclusion criteria
Inclusion criteria: Patients: - age 18 years and over. - confirmed diagnosis of a urea cycle defect or phenylketonuria (enzymatic or mutation analysis and amino acid spectrum) -treatment with a low protein diet (natural protein intake 0.8 gram/kg/day or lower) and the use of amino acid supplements Healthy subjects: -age 18 and over.
Exclusion criteria
Exclusion criteria: Patients: -known non-adherence to the diet -known incompliance with taking the amino acid supplements -use of antibiotics three months prior to sample collection -other severe conditions that may influence gut microbiome composition (e.g. liver cirrhosis, renal failure, inflammatory bowel disease) Healthy subjects: -illnesses known to influence microbiome composition (e.g. liver disease, bowel disease, diarrhea) -medication use known to influence microbiome
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| differences in the abundance of bacterial strains between healthy volunteers and UCD patients and between PKU and UCD patients | — |
Secondary
| Measure | Time frame |
|---|---|
| differences in the abundance of ammonia producing bacterial strains (e.g. Clostridium species) between healthy volunteers and UCD patients and between PKU and UCD patients | — |
Contacts
Public ContactC. Timmer
Outcome results
None listed