Carnitine Uptake Disorder (CUD) ,Primary Carnitine Deficiency, OCTN2 deficiency Carnitine Uptake Disorder (CUD)
Conditions
Interventions
Not applicaple
Sponsors
Universitair Medisch Centrum Utrecht
Eligibility
Age
No minimum to 99 Years
Inclusion criteria
Inclusion criteria: • OCTN2 deficiency, confirmed by reduced carnitine transporter activity in cultured fibroblasts and/or mutations in the SLC22A5 gene. • Subject referred to academic centre for OCTN2 deficiency because of low carnitine level in NBS. • Mother analysed in academic centre for OCTN2 deficiency due to low carnitine level in infant*s NBS. • CPT2 deficiency, confirmed by reduced Carnitine palmitoyltransferase II activity in lymphocytes or cultured fibroblasts and/or biallelic mutations in the CPT2 gene. • CACT deficiency, confirmed by carnitine acylcarnitine translocase activity in cultured fibroblasts and/or biallelic mutations in the SLC25A20 gene. • BKT deficiency, confirmed by reduced 2-methylacetoacetyl-CoA thiolase activity in cultured fibroblasts and/or biallelic mutations in the ACAT1 gene.
Exclusion criteria
Exclusion criteria: No exclusion criteria. All subjects that meet inclusion criteria are elligible for inclusion
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| The main study outcome is survey of OCTN2, CPT2, CACT or BKT deficiency in the Netherlands based on the following study parameters: - Clinical data; Medical history, current clinical state, physical examination. - Biochemical data; Laboratory assays performed in the context of diagnosis, eg acylcarinitine profile, protein activity, gene analysis, glucose/ketone level, CK level. - Additional testing; All additional tests performed in the context of evaluation of the disorder, eg electrocardiogram, cardiac ultrasound, imaging.Secondary study parameters:Sensitivity, specificity, positive predictive value and negative predictive value of novel assay, measuring urinary carnitine in dried urine spotsSensitivity, specificity, positive predictive value and negative predictive value of novel functional assay, measuring OCTN2 transporter activity in cultured urothelial cells | — |
Secondary
| Measure | Time frame |
|---|---|
| Sensitivity, specificity, positive predictive value and negative predictive value of novel functional assay, measuring OCTN2 transporter activity in cultured skin fibroblasts and lymfocytes. | — |
Countries
Netherlands
Contacts
Public ContactC.K.S Snelder
Universitair Medisch Centrum Utrecht
Outcome results
None listed