MCAD deficiency caused by compound heterozygous pathogenic variants in ACADM.

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.

SUBMITTER: Nohara F 

PROVIDER: S-EPMC8761748 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature