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Adult-onset very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD)
- Source :
- Eur J Neurol
- Publication Year :
- 2020
-
Abstract
- Background and purpose Very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD) is a hereditary disorder of mitochondrial long-chain fatty acid oxidation that has variable presentations, including exercise intolerance, cardiomyopathy and liver disease. The aim of this study was to describe the clinical and genetic manifestations of six patients with adult-onset VLCADD. Methods In this study, the clinical, pathological and genetic findings of six adult patients (four from Iran and two from Serbia) with VLCADD and their response to treatment are described. Results The median (range) age of patients at first visit was 31 (27-38) years, and the median (range) age of onset was 26.5 (19-33) years. Parental consanguinity was present for four patients. Four patients had a history of rhabdomyolysis, and the recorded CK level ranged between 67 and 90 000 IU/l. Three patients had a history of exertional myalgia, and one patient had a non-fluctuating weakness. Through next-generation sequencing analysis, we identified six cases with variants in the ACADVL gene and a confirmed diagnosis of VLCADD. Of the total six variants identified, five were missense, and one was a novel frameshift mutation identified in two unrelated individuals. Two variants were novel, and three were previously reported. We treated the patients with a combination of L-carnitine, Coenzyme Q10 and riboflavin. Three patients responded favorably to the treatment. Conclusion Adult-onset VLCADD is a rare entity with various presentations. Patients may respond favorably to a cocktail of L-carnitine, Coenzyme Q10, and riboflavin.
- Subjects :
- myalgia
Adult
Male
medicine.medical_specialty
Mitochondrial Diseases
Metabolic myopathy
Exercise intolerance
Lipid Metabolism, Inborn Errors
Article
Very Long-Chain Acyl-CoA Dehydrogenase Deficiency
03 medical and health sciences
Liver disease
Young Adult
0302 clinical medicine
Muscular Diseases
Internal medicine
medicine
Missense mutation
Congenital Bone Marrow Failure Syndromes
Humans
030212 general & internal medicine
business.industry
Acyl-CoA Dehydrogenase, Long-Chain
medicine.disease
3. Good health
Neurology
Female
Neurology (clinical)
medicine.symptom
Age of onset
business
Rhabdomyolysis
030217 neurology & neurosurgery
Subjects
Details
- ISSN :
- 14681331
- Volume :
- 27
- Issue :
- 11
- Database :
- OpenAIRE
- Journal :
- European journal of neurology
- Accession number :
- edsair.doi.dedup.....498e0dc8f6bb0fd4053c39c5bdb90206