MCAD deficiency caused by compound heterozygous pathogenic variants in ACADM

Fumikatsu Nohara; Go Tajima; Hideo Sasai; Yoshio Makita

doi:10.1038/s41439-021-00177-3

MCAD deficiency caused by compound heterozygous pathogenic variants in ACADM

Hum Genome Var. 2022 Jan 17;9(1):2. doi: 10.1038/s41439-021-00177-3.

Authors

Fumikatsu Nohara¹, Go Tajima², Hideo Sasai³, Yoshio Makita⁴

Affiliations

¹ Department of Pediatrics, Asahikawa-Kosei General Hospital, Hokkaido, Japan.
² Division of Neonatal Screening, Research Institute, National Center for Child Health and Development, Tokyo, Japan.
³ Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan.
⁴ Department of Genetic Counseling, Asahikawa Medical University Hospital, Hokkaido, Japan. makita5p@asahikawa-med.ac.jp.

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.

Abstract

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