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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, Wei Xia, Xuehua Peng, Jianbo Shao   +3 more
doaj   +4 more sources

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
doaj   +4 more sources

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, 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   +14 more
doaj   +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, Rana Yazdani, BS, Kelly A. Tornow, MD, Kristen N. Reeder, MD, Rebekah L. Clarke, MD, Cory M. Pfeifer, MD, MS   +5 more
doaj   +2 more sources

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, Stephen G. Kaler, Evan Mauceli, Tanya Sokolsky, Ling Yi, Arindam Bhattacharjee   +5 more
doaj   +2 more sources

An unusual presentation of Menkes disease masquerading as a leukodystrophy with macrocephaly

Journal of Pediatric Neurosciences, 2020
Background: Menkes disease is an X-linked neurodegenerative disease caused by mutation in ATP7A gene, which codes for copper-transporting ATPase. It usually presents in early infancy with neuro-regression, hypotonia, seizures, and kinky hair.
Anshula Tayal, Aman Elwadhi, Suvasini Sharma, Bijoy Patra   +3 more
doaj   +2 more sources

Brain and the whole-body bone imaging appearances in Menkes disease: a case report and literature review [PDF]

BMC Pediatrics
Background 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, Yi Liao, Xuesheng Li, Fenglin Jia, Xinmao Ma, Haibo Qu   +5 more
doaj   +2 more sources

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, Carlos R. Ferreira, Lung S. Yam   +2 more
doaj   +2 more sources

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, Hiroko Kodama, Yasuhiro Sato, Masakazu Mimaki, Mariko Yagi, Hiroyuki Awano, Muneaki Matsuo, Haruo Shintaku, Sayaka Yoshida, Masaki Takayanagi, Mitsuru Kubota, Akihito Takahashi, Yoshikiyo Akasaka   +12 more
doaj   +2 more sources

Could excessive zinc supplementation during pregnancy cause menkes disease? A hypothesis worth investigating [PDF]

Frontiers in Pediatrics
BackgroundCopper is an essential micronutrient critical for fetal neurodevelopment, haematopoiesis, angiogenesis, and immune function, with maternal transfer—particularly in the third trimester—playing a key role in establishing fetal copper stores ...
Uma Maheshwari Mugundan, Venkatesan Saravanan, Muhasaparur Ganesan Rajanandh   +2 more
doaj   +2 more sources