Very Long Chain Acyl-CoA Dehydrogenase Deficiency (VLCADD) is an autosomal recessive inherited disorder of mitochondrial long-chain fatty acid beta-oxidation (OMIM 201475) Nutritional, Metabolic, Endocrine Very Long Chain Acyl-CoA Dehydrogenase Deficiency (VLCADD) is an autosomal recessive inherited disorder of mitochondrial long-chain fatty acid beta-oxidation (OMIM 201475)
Conditions
Interventions
For this observational study, all registered Dutch Very Long Chain Acyl-CoA Dehydrogenase Deficiency (VLCADD) patients diagnosed before 2007 (when VLCADD was included in the Dutch newborn screening pr
Sponsors
University Medical Center Utrecht
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 1. Confirmed diagnosis based on deficient VLCADD enzymatic activity in lymphocytes and/or cultured fibroblasts 2. Presence of biallelic mutations in the ACADVL gene (OMIM 609575). The diagnosis should not be based on newborn screening. 3. Aged between 10 to 99 years old
Exclusion criteria
Exclusion criteria: Diagnosis based on results of Newborn Screening
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Clinical outcomes are measured using the Clinical Severity Score (CSS) during visits to the Dutch FAO (around everyone to two years). | — |
Secondary
| Measure | Time frame |
|---|---|
| Ability to work/ attend a regular school as reported by the patient or parents is measured using a standardized questionnaire at each visit to the Dutch FAO expertise center at the University Medical Center Utrecht. | — |
Countries
Netherlands
Outcome results
None listed