Unfavorable switching of skewed X chromosome inactivation leads to Menkes disease in a female infant [PDF]
Scientific ReportsMenkes disease is an X-linked disorder of copper metabolism caused by mutations in the ATP7A gene, and female carriers are usually asymptomatic. We describe a 7-month-old female patient with severe intellectual disability, epilepsy, and low levels of ...
Ayumi Matsumoto +16 more
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Menkes disease complicated by concurrent Koolen‐de Vries syndrome (17q21.31 deletion) [PDF]
Molecular Genetics & Genomic Medicine, 2019 Background Koolen‐de Vries (KdV) syndrome is caused by a 17q21.31 deletion leading to clinical symptoms of hypotonia and developmental delay and can present with abnormal hair texture.
Taylor Woodfin +5 more
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Neuroimaging in Menkes Disease.
J Pediatr Neurosci, 2017 Menkes disease (MD) is a rare infantile onset neurodegenerative disorder due to mutations in the X linked ATP7A gene. These patients can present with failure to thrive, severe psychomotor retardation, seizures and hypopigmented hair, which is characteristic of this condition. A number of neuro-radiological findings have been reported in this condition.
Ahmed MI, Hussain N.
europepmc +5 more sources
Decreased Expression of the Slc31a1 Gene and Cytoplasmic Relocalization of Membrane CTR1 Protein in Renal Epithelial Cells: A Potent Protective Mechanism against Copper Nephrotoxicity in a Mouse Model of Menkes Disease. [PDF]
Int J Mol Sci, 2022 Kidneys play an especial role in copper redistribution in the organism. The epithelial cells of proximal tubules perform the functions of both copper uptake from the primary urine and release to the blood.
Haberkiewicz O +12 more
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Mottled mice and non-mammalian models of Menkes disease [PDF]
Frontiers in Molecular Neuroscience, 2015 Menkes disease is a multi-systemic copper metabolism disorder caused by mutations in the X-linked ATP7A gene and characterised by progressive neurodegeneration and severe connective tissue defects.
malgorzata elenartowicz +6 more
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Definitions, 2012 An X-linked disorder caused by mutations in the ATP7A gene resulting in the abnormal transport and metabolism of copper. It affects primarily male infants.
Prashant Gupta
semanticscholar +5 more sources
Neuroimaging findings in Menkes disease: a rare neurodegenerative disorder. [PDF]
BMJ Case Rep, 2018 Rangarh P, Kohli N.
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Reduced Neutrophil Extracellular Trap (NET) Formation During Systemic Inflammation in Mice With Menkes Disease and Wilson Disease: Copper Requirement for NET Release. [PDF]
Front Immunol, 2019 Neutrophil extracellular traps (NETs) contribute to pathological disorders, and their release was directly linked to numerous diseases. With intravital microscopy (IVM), we showed previously that NETs also contribute to the pathology of systemic ...
Cichon I +4 more
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Menkes disease: what a multidisciplinary approach can do [PDF]
Journal of Multidisciplinary Healthcare, 2016 Rahul Ojha,1 Asuri N Prasad1–4 1Department of Pediatrics, 2Section of Pediatric Neurology, 3Division of Clinical Neurological Sciences, 4Child Health Research Institute, Schulich School of Medicine and Dentistry, University of Western Ontario ...
Ojha R, Prasad AN
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