Metabolic disease Tyrosinemia Type 1
Conditions
Interventions
None listed
Sponsors
Universitair Medisch Centrum Groningen
Eligibility
Age
2 Years to 99 Years
Inclusion criteria
Inclusion criteria: General inclusion criteria for recruitment of HT1 patients: - Patients meet NIH-diagnostic criteria for Hereditary Tyrosinemia Type 1 (HT1) - Patients are treated with NTBC alone or with a diet as well, or patients received orthotopic liver transplantation (OLT) - Minimum age of 7 years at time of study - IQ >= 80 (if unknown, this will be assessed) - Patients have not participated in neuropsychological studies in the last 6 months - Native speaker;General inclusion criteria for recruitment of controls: - Controls are healthy - Minimum age of 7 years at time of study - IQ >= 80 (if unknown, this will be assessed) - Controls have not participated in neuropsychological studies in the last 6 months - Native speaker
Exclusion criteria
Exclusion criteria: General exclusion criteria for recruitment of HT1 patients: - Mental retardation that has been diagnosed by the clinical centre - Neurological damage due to the disease, except for acute porphyria attacks - Medical illnesses other than HT1 with known effects on cognitive and social functioning - Not a native speaker;General exclusion criteria for recruitment of controls: - Mental retardation that has been diagnosed by the clinical centre - Medical illnesses with known effects on cognitive and social functioning - Not a native speaker
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Main study parameters/endpoints: Neurocognitive tasks, measuring executive functions (inhibition, working memory, cognitive flexibility) and social cognition serve as study parameters. Questionnaires measuring executive and social functioning and behaviour in daily life are also used. Historical and concurrent tyrosine and phenylalanine concentrations are used as predictors expecting significant differences between HT1 patients with high and low blood levels, and between patients and controls. | — |
Secondary
| Measure | Time frame |
|---|---|
| Participants will perform an abbreviated version of the Wechsler Intelligence Scale for Children (WISC) and Wechsler Adult Intelligence Scale (WAIS) with two subtests: Block Design and Vocabulary. Next to this timing and clinical symptoms at time of diagnosis and some bloodresults will be gathered namely (all other amino acids (including tryptophan), succinylacetone and NTBC concentration, serotonine, prolactin and metanephrines (breakdown of noradrenaline and adrenaline)) | — |
Countries
Netherlands
Outcome results
None listed