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 > ...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Nature Publishing Group
2022-01-01
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| Series: | Human Genome Variation |
| Online Access: | https://doi.org/10.1038/s41439-021-00177-3 |
| _version_ | 1818332955998683136 |
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| author | Fumikatsu Nohara Go Tajima Hideo Sasai Yoshio Makita |
| author_facet | Fumikatsu Nohara Go Tajima Hideo Sasai Yoshio Makita |
| author_sort | Fumikatsu Nohara |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-13T13:43:58Z |
| format | Article |
| id | doaj.art-b69016dfc72140cbba16d2481a825ad5 |
| institution | Directory Open Access Journal |
| issn | 2054-345X |
| language | English |
| last_indexed | 2024-12-13T13:43:58Z |
| publishDate | 2022-01-01 |
| publisher | Nature Publishing Group |
| record_format | Article |
| series | Human Genome Variation |
| spelling | doaj.art-b69016dfc72140cbba16d2481a825ad52022-12-21T23:43:31ZengNature Publishing GroupHuman Genome Variation2054-345X2022-01-01911310.1038/s41439-021-00177-3MCAD deficiency caused by compound heterozygous pathogenic variants in ACADMFumikatsu Nohara0Go Tajima1Hideo Sasai2Yoshio Makita3Department of Pediatrics, Asahikawa-Kosei General HospitalDivision of Neonatal Screening, Research Institute, National Center for Child Health and DevelopmentDepartment of Pediatrics, Graduate School of Medicine, Gifu UniversityDepartment of Genetic Counseling, Asahikawa Medical University HospitalAbstract 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.https://doi.org/10.1038/s41439-021-00177-3 |
| spellingShingle | Fumikatsu Nohara Go Tajima Hideo Sasai Yoshio Makita MCAD deficiency caused by compound heterozygous pathogenic variants in ACADM Human Genome Variation |
| title | MCAD deficiency caused by compound heterozygous pathogenic variants in ACADM |
| title_full | MCAD deficiency caused by compound heterozygous pathogenic variants in ACADM |
| title_fullStr | MCAD deficiency caused by compound heterozygous pathogenic variants in ACADM |
| title_full_unstemmed | MCAD deficiency caused by compound heterozygous pathogenic variants in ACADM |
| title_short | MCAD deficiency caused by compound heterozygous pathogenic variants in ACADM |
| title_sort | mcad deficiency caused by compound heterozygous pathogenic variants in acadm |
| url | https://doi.org/10.1038/s41439-021-00177-3 |
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