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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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Tallennettuna:
Päätekijät: Alessia Mauri, Laura Assunta Saielli, Enrico Alfei, Maria Iascone, Daniela Marchetti, Elisa Cattaneo, Anna Di Lauro, Laura Antonelli, Luisella Alberti, Eleonora Bonaventura, Pierangelo Veggiotti, Luigina Spaccini, Cristina Cereda
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Frontiers Media S.A. 2023-03-01
Sarja:Frontiers in Genetics
Aiheet:
case report
Menkes disease
novel ATP7A variant
ACY deficiency
overlapping phenotype
delayed copper therapy
Linkit:https://www.frontiersin.org/articles/10.3389/fgene.2023.1077625/full
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