Menkes disease complicated by concurrent ACY1 deficiency: A case report
Introduction: Menkes disease is an X‐linked recessive condition caused by mutations in the ATP7A gene, which leads to severe copper deficiency. Aminoacylase-1 deficiency is a rare inborn error of metabolism caused by homozygous or compound heterozygous variant in the ACY1 gene, characterized by incr...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2023-03-01
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| Series: | Frontiers in Genetics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2023.1077625/full |
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| author | Alessia Mauri Alessia Mauri Laura Assunta Saielli Enrico Alfei Maria Iascone Daniela Marchetti Elisa Cattaneo Anna Di Lauro Laura Antonelli Luisella Alberti Eleonora Bonaventura Pierangelo Veggiotti Pierangelo Veggiotti Luigina Spaccini Cristina Cereda |
| author_facet | Alessia Mauri Alessia Mauri Laura Assunta Saielli Enrico Alfei Maria Iascone Daniela Marchetti Elisa Cattaneo Anna Di Lauro Laura Antonelli Luisella Alberti Eleonora Bonaventura Pierangelo Veggiotti Pierangelo Veggiotti Luigina Spaccini Cristina Cereda |
| author_sort | Alessia Mauri |
| collection | DOAJ |
| description | Introduction: Menkes disease is an X‐linked recessive condition caused by mutations in the ATP7A gene, which leads to severe copper deficiency. Aminoacylase-1 deficiency is a rare inborn error of metabolism caused by homozygous or compound heterozygous variant in the ACY1 gene, characterized by increased urinary excretion of specific N-acetyl amino acids.Case presentation: We report an infant with neurological findings such as seizures, neurodevelopmental delay and hypotonia. Metabolic screening showed low serum copper and ceruloplasmin, and increased urinary excretion of several N-acetylated amino acids. Whole-exome sequencing analysis (WES) revealed the novel de novo variant c.3642_3649dup (p.Ala1217Aspfs*2) in the ATP7A gene, leading to a diagnosis of Menkes disease, and the simultaneous presence of the homozygous ACY1 variant c.1057C>T (p.Arg353Cys) causative of Aminoacylase-1 deficiency.Conclusion: Our patient had two rare conditions with different treatment courses but overlapping clinical features. The identified novel ATP7A mutation associated with Menkes disease expands the ATP7A gene spectrum. |
| first_indexed | 2024-04-10T06:22:04Z |
| format | Article |
| id | doaj.art-d1d5fd7869b040fb9901fef9c3fa9711 |
| institution | Directory Open Access Journal |
| issn | 1664-8021 |
| language | English |
| last_indexed | 2024-04-10T06:22:04Z |
| publishDate | 2023-03-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Genetics |
| spelling | doaj.art-d1d5fd7869b040fb9901fef9c3fa97112023-03-02T04:50:43ZengFrontiers Media S.A.Frontiers in Genetics1664-80212023-03-011410.3389/fgene.2023.10776251077625Menkes disease complicated by concurrent ACY1 deficiency: A case reportAlessia Mauri0Alessia Mauri1Laura Assunta Saielli2Enrico Alfei3Maria Iascone4Daniela Marchetti5Elisa Cattaneo6Anna Di Lauro7Laura Antonelli8Luisella Alberti9Eleonora Bonaventura10Pierangelo Veggiotti11Pierangelo Veggiotti12Luigina Spaccini13Cristina Cereda14Department of Biomedical and Clinical Sciences, University of Milan, Milan, ItalyCenter of Functional Genomics and Rare Diseases, Buzzi Children’s Hospital, Milan, ItalyCenter of Functional Genomics and Rare Diseases, Buzzi Children’s Hospital, Milan, ItalyPediatric Neurology Unit, Buzzi Children’s Hospital, Milan, ItalyMedical Genetics Laboratory, Bergamo, ItalyMedical Genetics Laboratory, Bergamo, ItalyClinical Genetics Unit, Buzzi Children’s Hospital, Milan, ItalyCenter of Functional Genomics and Rare Diseases, Buzzi Children’s Hospital, Milan, ItalyCenter of Functional Genomics and Rare Diseases, Buzzi Children’s Hospital, Milan, ItalyCenter of Functional Genomics and Rare Diseases, Buzzi Children’s Hospital, Milan, ItalyPediatric Neurology Unit, Buzzi Children’s Hospital, Milan, ItalyDepartment of Biomedical and Clinical Sciences, University of Milan, Milan, ItalyPediatric Neurology Unit, Buzzi Children’s Hospital, Milan, ItalyClinical Genetics Unit, Buzzi Children’s Hospital, Milan, ItalyCenter of Functional Genomics and Rare Diseases, Buzzi Children’s Hospital, Milan, ItalyIntroduction: Menkes disease is an X‐linked recessive condition caused by mutations in the ATP7A gene, which leads to severe copper deficiency. Aminoacylase-1 deficiency is a rare inborn error of metabolism caused by homozygous or compound heterozygous variant in the ACY1 gene, characterized by increased urinary excretion of specific N-acetyl amino acids.Case presentation: We report an infant with neurological findings such as seizures, neurodevelopmental delay and hypotonia. Metabolic screening showed low serum copper and ceruloplasmin, and increased urinary excretion of several N-acetylated amino acids. Whole-exome sequencing analysis (WES) revealed the novel de novo variant c.3642_3649dup (p.Ala1217Aspfs*2) in the ATP7A gene, leading to a diagnosis of Menkes disease, and the simultaneous presence of the homozygous ACY1 variant c.1057C>T (p.Arg353Cys) causative of Aminoacylase-1 deficiency.Conclusion: Our patient had two rare conditions with different treatment courses but overlapping clinical features. The identified novel ATP7A mutation associated with Menkes disease expands the ATP7A gene spectrum.https://www.frontiersin.org/articles/10.3389/fgene.2023.1077625/fullcase reportMenkes diseasenovel ATP7A variantACY deficiencyoverlapping phenotypedelayed copper therapy |
| spellingShingle | Alessia Mauri Alessia Mauri Laura Assunta Saielli Enrico Alfei Maria Iascone Daniela Marchetti Elisa Cattaneo Anna Di Lauro Laura Antonelli Luisella Alberti Eleonora Bonaventura Pierangelo Veggiotti Pierangelo Veggiotti Luigina Spaccini Cristina Cereda Menkes disease complicated by concurrent ACY1 deficiency: A case report Frontiers in Genetics case report Menkes disease novel ATP7A variant ACY deficiency overlapping phenotype delayed copper therapy |
| title | Menkes disease complicated by concurrent ACY1 deficiency: A case report |
| title_full | Menkes disease complicated by concurrent ACY1 deficiency: A case report |
| title_fullStr | Menkes disease complicated by concurrent ACY1 deficiency: A case report |
| title_full_unstemmed | Menkes disease complicated by concurrent ACY1 deficiency: A case report |
| title_short | Menkes disease complicated by concurrent ACY1 deficiency: A case report |
| title_sort | menkes disease complicated by concurrent acy1 deficiency a case report |
| topic | case report Menkes disease novel ATP7A variant ACY deficiency overlapping phenotype delayed copper therapy |
| url | https://www.frontiersin.org/articles/10.3389/fgene.2023.1077625/full |
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