ATP7A-Regulated Enzyme Metalation and Trafficking in the Menkes Disease Puzzle [PDF]
Biomedicines, 2021 Copper is vital for numerous cellular functions affecting all tissues and organ systems in the body. The copper pump, ATP7A is critical for whole-body, cellular, and subcellular copper homeostasis, and dysfunction due to genetic defects results in Menkes
Nina Horn, Pernilla Wittung-stafshede
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Estimated birth prevalence of Menkes disease and ATP7A-related disorders based on the Genome Aggregation Database (gnomAD) [PDF]
Molecular Genetics and Metabolism Reports, 2020 Background: Previous estimates of the prevalence of Menkes disease, a lethal X-linked recessive disorder of copper metabolism, were based on confirmed clinical cases ascertained from specific populations and varied from 1 in 40,000 to 1 in 354,507.
Stephen G. Kaler +2 more
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Almost misdiagnosed Menkes disease: A case report [PDF]
Heliyon, 2022 Background: Menkes disease is a disorder of copper metabolism and which follows a progressive degeneration of brain. It is a rare X-linked recessive disorder that results from mutations in ATP7A gene.
Yu Guo +3 more
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Menkes disease complicated by concurrent ACY1 deficiency: A case report [PDF]
Frontiers in Genetics, 2023 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 ...
Alessia Mauri +14 more
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Early clinical signs and treatment of Menkes disease [PDF]
Molecular Genetics and Metabolism Reports, 2022 Menkes disease (MD) is an X-linked recessive disorder caused by mutations in ATP7A. Patients with MD exhibit severe neurological and connective tissue disorders due to copper deficiency and typically die before 3 years of age. Early treatment with copper
Chie Fujisawa +12 more
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Targeted next generation sequencing for newborn screening of Menkes disease [PDF]
Molecular Genetics and Metabolism Reports, 2020 Purpose: Population-based newborn screening (NBS) allows early detection and treatment of inherited disorders. For certain medically-actionable conditions, however, NBS is limited by the absence of reliable biochemical signatures amenable to detection by
Richard B. Parad +5 more
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Emergent embolization of a ruptured splenic artery aneurysm complicating Menkes disease [PDF]
Radiology Case Reports, 2018 We report a 7-year-old boy with Menkes disease complicated by rupture of a large splenic artery aneurysm. The aneurysm was successfully embolized with microcoils and n-butyl cyanoacrylate.
John F. Olivieri, BS +4 more
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Molecular basis of neurodegeneration and neurodevelopmental defects in Menkes disease [PDF]
Neurobiology of Disease, 2015 ATP7A mutations impair copper metabolism resulting in three distinct genetic disorders in humans. These diseases are characterized by neurological phenotypes ranging from intellectual disability to neurodegeneration. Severe ATP7A loss-of-function alleles
Stephanie A Zlatic +2 more
exaly +4 more sources
Imaging findings of Menkes disease, a radiographic mimic of abusive trauma [PDF]
Radiology Case Reports, 2019 Menkes disease is a rare X-linked recessive disorder caused by impaired copper absorption and transport. Presented here is a case of a 12-week-old male who presented with hypotonia and multiple metaphyseal fractures. Further imaging and workup revealed a
Oyindamola N. Akinseye, BA +5 more
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Brain and the whole-body bone imaging appearances in Menkes disease: a case report and literature review [PDF]
BMC PediatricsBackground Menkes disease (MD) is a rare, inherited, multisystemic copper metabolism disorder. Classical Menkes disease is characterized by low serum copper and ceruloplasmin concentrations, leading to multiple abnormalities in the whole-body, especially
Juncheng Zhu +5 more
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