ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.[1097G>A;869del]

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences RCV001075886 SCV001241527 likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2019-12-01 no assertion criteria provided research This 27-year-old woman referred to the emergency department without a history of previous illness, with muscle weakness of four extremities from three days before. She reported an episode of dark urine after prolonged exercise from one-week ago. The parents were second cousins. Two brothers, one at the age of 3 and the other one at the age of 4, and her sister during infancy had died of cardiomyopathy; she had an older sister and three younger brothers, who were healthy. The CK was 46000 IU/L during admission; echocardiography was normal, and electromyography was myopathic in proximal and distal muscles of upper and lower extremities with prominent spontaneous activity. Subsequently, the patient developed acute kidney injury (serum creatinine 8.2 mg/dL), and hemodialysis was begun for the patient. Muscle strength improved over several weeks.

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