Human Genome Variation (Jan 2022)

MCAD deficiency caused by compound heterozygous pathogenic variants in ACADM

  • Fumikatsu Nohara,
  • Go Tajima,
  • Hideo Sasai,
  • Yoshio Makita

DOI
https://doi.org/10.1038/s41439-021-00177-3
Journal volume & issue
Vol. 9, no. 1
pp. 1 – 3

Abstract

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Abstract Medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency is an autosomal recessive disease caused by biallelic pathogenic ACADM variants. We report a case of an asymptomatic Japanese girl with MCAD deficiency caused by compound heterozygous pathogenic variants (NM_000016.5:c.1040G > T (p.Gly347Val) and c.449_452delCTGA (p.Thr150ArgfsTer4)). Because the MCAD residual activity in lymphocytes of the patient was below the limit of quantification, both variants are likely to cause complete loss of MCAD enzymatic activity.