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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Principais autores:	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
Format:	Artigo
Jezik:	Inglês
Izdano:	Frontiers Media S.A. 2023-03-01
Serija:	Frontiers in Genetics
Teme:	case report Menkes disease novel ATP7A variant ACY deficiency overlapping phenotype delayed copper therapy
Online dostop:	https://www.frontiersin.org/articles/10.3389/fgene.2023.1077625/full
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