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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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Autores principales: Mauri, Alessia, Saielli, Laura Assunta, Alfei, Enrico, Iascone, Maria, Marchetti, Daniela, Cattaneo, Elisa, Di Lauro, Anna, Antonelli, Laura, Alberti, Luisella, Bonaventura, Eleonora, Veggiotti, Pierangelo, Spaccini, Luigina, Cereda, Cristina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10017521/
https://www.ncbi.nlm.nih.gov/pubmed/36936426
http://dx.doi.org/10.3389/fgene.2023.1077625
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author Mauri, Alessia
Saielli, Laura Assunta
Alfei, Enrico
Iascone, Maria
Marchetti, Daniela
Cattaneo, Elisa
Di Lauro, Anna
Antonelli, Laura
Alberti, Luisella
Bonaventura, Eleonora
Veggiotti, Pierangelo
Spaccini, Luigina
Cereda, Cristina
author_facet Mauri, Alessia
Saielli, Laura Assunta
Alfei, Enrico
Iascone, Maria
Marchetti, Daniela
Cattaneo, Elisa
Di Lauro, Anna
Antonelli, Laura
Alberti, Luisella
Bonaventura, Eleonora
Veggiotti, Pierangelo
Spaccini, Luigina
Cereda, Cristina
author_sort Mauri, Alessia
collection PubMed
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.
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spelling pubmed-100175212023-03-17 Menkes disease complicated by concurrent ACY1 deficiency: A case report Mauri, Alessia Saielli, Laura Assunta Alfei, Enrico Iascone, Maria Marchetti, Daniela Cattaneo, Elisa Di Lauro, Anna Antonelli, Laura Alberti, Luisella Bonaventura, Eleonora Veggiotti, Pierangelo Spaccini, Luigina Cereda, Cristina Front Genet Genetics 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. Frontiers Media S.A. 2023-03-02 /pmc/articles/PMC10017521/ /pubmed/36936426 http://dx.doi.org/10.3389/fgene.2023.1077625 Text en Copyright © 2023 Mauri, Saielli, Alfei, Iascone, Marchetti, Cattaneo, Di Lauro, Antonelli, Alberti, Bonaventura, Veggiotti, Spaccini and Cereda. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Genetics
Mauri, Alessia
Saielli, Laura Assunta
Alfei, Enrico
Iascone, Maria
Marchetti, Daniela
Cattaneo, Elisa
Di Lauro, Anna
Antonelli, Laura
Alberti, Luisella
Bonaventura, Eleonora
Veggiotti, Pierangelo
Spaccini, Luigina
Cereda, Cristina
Menkes disease complicated by concurrent ACY1 deficiency: A case report
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 Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10017521/
https://www.ncbi.nlm.nih.gov/pubmed/36936426
http://dx.doi.org/10.3389/fgene.2023.1077625
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