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case_report·pediatrics, internal medicine, neurology, nutrition, clinical nutrition·PMC10452278

Juvenile-Onset Recurrent Rhabdomyolysis Due to Compound Heterozygote Variants in the ACADVL Gene

Brain Sciences · 10 authors, 4 centres

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Compound heterozygous variants in the ACADVL gene were identified: c.1769G>A (p.Arg590Gln), previously reported with variable pathogenicity classifications, and c.523G>C (p.Gly175Arg), a novel variant not previously reported in variant databases. The novel variant is predicted to affect the helix domain and catalytic region of VLCAD. The report highlights the importance of considering VLCADD in the differential diagnosis of recurrent rhabdomyolysis in adolescents and young adults, as the later-onset phenotype is rare and frequently underdiagnosed.

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case_report

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pediatrics

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ORIGINAL PAPER

PMC10452278

Juvenile-Onset Recurrent Rhabdomyolysis Due to Compound Heterozygote Variants in the ACADVL Gene

Brain Sciences

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ABSTRACT

Abstract Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a rare autosomal recessive long-chain fatty acid oxidation disorder caused by mutations in the ACADVL gene. The myopathic form presents with exercise intolerance, exercise-related rhabdomyolysis, and muscle pain, usually starting during adolescence or adulthood. We report on a 17-year-old boy who has presented with exercise-induced muscle pain and fatigue since childhood. In recent clinical history, episodes of exercise-related severe hyperCKemia and myoglobinuria were reported. Electromyography was normal, and a muscle biopsy showed only “moth-eaten” fibers, and a mild increase in lipid storage in muscle fibers. NGS analysis displayed the already known heterozygote c.1769G>A variant and the unreported heterozygote c.523G>C change in ACADVL both having disease-causing predictions. Plasma acylcarnitine profiles revealed high long-chain acylcarnitine species levels, especially C14:1. Clinical, histopathological, biochemical, and genetic tests supported the diagnosis of VLCAD deficiency. Our report of a novel pathogenic missense variant in ACADVL expands the allelic heterogeneity of the disease. Since dietary treatment is the only therapy available for treating VLCAD deficiency and it is more useful the earlier it is started, prompt diagnosis is essential in order to minimize muscle damage and slow the disease progression. Keywords: lipid myopathy, ACADVL , VLCAD, VLCADD, myoglobinuria, rhabdomyolysis

CITATION EXPORT

Beatrice Labella, Gaetana Lanzi, Stefano Cotti Piccinelli et al.. Juvenile-Onset Recurrent Rhabdomyolysis Due to Compound Heterozygote Variants in the ACADVL Gene. Brain Sciences. (2023). https://doi.org/10.3390/brainsci13081178

AUTHORS

10 · 4 CENTRES

Beatrice Labella, Gaetana Lanzi, Stefano Cotti Piccinelli, Filomena Caria, Simona Damioli, Barbara Risi, Enrica Bertella, Loris Poli, Alessandro Padovani, Massimiliano Filosto

1Department of Clinical and Experimental Sciences, University of Brescia, 25100 Brescia, Italy; [email protected] (B.L.); [email protected] (S.C.P.); [email protected] (A.P.)
2Unit of Neurology, ASST “Spedali Civili”, 25100 Brescia, Italy; [email protected]
3Medical Genetics Laboratory, Diagnostic Department, ASST-Pedali Civili of Brescia, 25100 Brescia, Italy; [email protected]
4NeMO—Brescia Clinical Center for Neuromuscular Diseases, 25064 Brescia, Italy; [email protected] (F.C.); [email protected] (S.D.); [email protected] (B.R.); [email protected] (E.B.)