title: Intermittent rhabdomyolysis with adult onset associated with a mutation in the ACADVL gene.
abstract: Deficiency of very-long-chain acyl-CoA dehydrogenase (VLCAD) is an autosomal recessive disease. Most common phenotypes occur in the neonatal period or in childhood with cardiomyopathy, hepatomegaly, and hypoketogenic hypoglycemia. Juvenile/adult-onset is characterized by exercise intolerance and recurrent rhabdomyolysis triggered by prolonged exercise or fasting. This article reports a patient with the homozygous mutation c.1097G>A (p.R366H) in the ACADVL gene. In Portugal, VLCAD deficiency became part of the neonatal screening plan in 2004, and as of 2012, 8 early-onset cases have been diagnosed, giving an incidence rate of 1:97.238 per 737.902 newborns. This patient was diagnosed outside of the neonatal screening plan. Beta-oxidation defects pose a diagnostic challenge because of their transient clinical and laboratorial manifestations and the absence of morphological changes in muscle biopsy further complicate matters, especially in the late-onset forms of the disease. The adult phenotype of VLCAD deficiency is highlighted, emphasizing the need for a high suspicion index and the value of tandem mass spectrometry for the diagnosis.
authors.affiliation: *Neurology Department, CHLN-Hospital Santa Maria, Lisbon, portugal; †National Institute of Health Dr Ricardo Jorge, INSA Newborn Screening, Metabolism & Genetics Unit, Oporto, portugal; ‡Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, Muscle Unit, United Kingdom.
authors.forename: Ana Patrícia
authors.initials: AP
authors.lastname: Antunes
authors.forename: Célia
authors.initials: C
authors.lastname: Nogueira
authors.forename: Hugo
authors.initials: H
authors.lastname: Rocha
authors.forename: Laura
authors.initials: L
authors.lastname: Vilarinho
authors.forename: Teresinha
authors.initials: T
authors.lastname: Evangelista
mesh_terms: D044942:Acyl-CoA Dehydrogenase, Long-Chain / Q000172:deficiency* / Q000235:genetics; D000080984:Congenital Bone Marrow Failure Syndromes; D006801:Humans; D008052:Lipid Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D028361:Mitochondrial Diseases / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D009135:Muscular Diseases / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation; D012206:Rhabdomyolysis / Q000209:etiology / Q000235:genetics*
chemical_list: D044942:Acyl-CoA Dehydrogenase, Long-Chain; C467805:ACADVL protein, human