Successful pregnancy in a patient with mitochondrial cardiomyopathy due to ACAD9 deficiency

Talia Jacobi-Polishook, Naama Yosha-Orpaz, Yair Sagi, Dorit Lev, Tally Lerman-Sagie*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


Acyl-CoA dehydrogenase family member 9 (ACAD9) is an enzyme essential for the assembly of mitochondrial respiratory chain complex I. ACAD9 deficiency can cause lactic acidosis, myopathy, cardiomyopathy, intellectual disability, and early demise. We present a patient with mitochondrial myopathy, hypertrophic cardiomyopathy, and epilepsy due to recessive ACAD9 mutations. A muscle biopsy depicted ragged red fibers, and decreased activity of complex I of the respiratory chain. Treatment with riboflavin was initiated at the age of 4 years due to complex I deficiency (before the genetic diagnosis), resulting in symptomatic improvement of the cardiomyopathy, exercise intolerance, and lactate levels. A novel homozygous ACAD9 mutation was found: c.398G>A; p.Ser133Asn at the age of 23 years. Three years later she sustained a normal pregnancy, and gave birth to a healthy baby girl delivered by an elective Cesarean section. To the best of our knowledge, this is the first description of a successful pregnancy and delivery in a patient with this rare mitochondrial disease.

Original languageEnglish
Pages (from-to)9-13
Number of pages5
JournalJIMD Reports
Issue number1
StatePublished - 1 Nov 2020


  • ACAD9
  • cardiomyopathy
  • fatty acid oxidation
  • mitochondrial disease
  • pregnancy
  • riboflavin


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