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Menkes Kinky Hair Syndrome
Published in Charles Theisler, Adjuvant Medical Care, 2023
Also known as Menkes syndrome or Menkes disease, this is an inherited disorder that leads to a copper deficiency. Characteristic findings include kinky hair, growth failure, and deterioration of the nervous system with seizures, poor head control, and reduced muscle tone. Most children with Menkes have severe symptoms that lead to death at an early age.1
Genetic Disorders of the Autonomic Nervous System
Published in David Robertson, Italo Biaggioni, Disorders of the Autonomic Nervous System, 2019
Menkes syndrome is an X-linked recessive disorder characterized by early growth retardation, stubby and white hair, hypopigmentation; arterial rupture and thrombosis, urinary tract diverticulae and focal cerebral and cerebellar degeneration. Survival beyond 10 years is rare, and brain damage is usually severe.
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Published in Anton Sebastian, A Dictionary of the History of Medicine, 2018
Menkes Syndrome Inborn error of leucine and isoleucine metabolism leading to mental deficiency. Described by American pediatrician, John H. Menkes (b 1928), in 1954. Due to the maple syrup odor of the urine, it is also known as maple syrup disease, or, because of the effect on hair, as kinky hair syndrome.
Copper deficiency, a rare but correctable cause of pancytopenia: a review of literature
Published in Expert Review of Hematology, 2022
Nayha Tahir, Aqsa Ashraf, Syed Hamza Bin Waqar, Abdul Rafae, Leela Kantamneni, Taha Sheikh, Rafiullah Khan
A high index of suspicion is required when evaluating a patient with potential copper deficiency. Culprits such as bariatric surgery leading to malabsorption, zinc supplementation for conditions such as macular degeneration, severe malnourishment, use of denture adhesive paste containing high levels of zinc, copper chelation therapy in Wilson’s disease, protein-losing enteropathies like celiac disease, tropical sprue, or inflammatory bowel disease are some conditions in a patient’s medical history that prompt further inquiry. Menkes syndrome, which is a rare X-linked recessive disorder, must be considered especially in boys. Prolonged use of proton pump inhibitors can cause decreased absorption of copper; hence, a review of the medications a patient is taking is valuable [42]. Hence, a thorough past medical, surgical, family, and medication history are essential to collect while interviewing the patient.
4-Formylphenyl boronic acid grafted amino MCM-41 for efficient adsorption of Cu(II) ions in aqueous medium: isotherm, kinetic and optimization studies
Published in Toxin Reviews, 2022
Inderpreet Kaur, Navjot Kaur, Bhupinder Pal Singh, Rajeev Kumar, Jyoti Chawla
Copper and its compounds have been widely used in a variety of applications and ubiquitous in the environment. Copper is the major constituent in various metal alloys used in jewellery, marine hardware, coins and strain gauges. Copper is also present in different bacteriostatic agents, fungicides and wood preservatives. Copper bearing acid mine drainage and mining wastes are accountable for discharging considerable dose of dissolved copper in wastewater. Additional potential anthropogenic sources of copper containing waste include plating baths, industries of fertilizers, paints and pigments; municipal, agricultural and storm water runoffs which increases the levels of copper in environment and pose a serious threat to living resources including both humans and aquatic organisms along with ecological systems as they are non-biodegradable and toxic when present above the permissible limits. WHO prescribed the permissible limit of 1.0 ppm in drinking water (WHO 2011). Although copper is essential for smooth functioning of biological systems but its high concentration can cause metal poisoning called copperiedus associated with acute symptoms such as vomiting, hematemesis, hypotension, melena, coma, jaundice and gastrointestinal distress (Seiler et al. 1987). Disorders like Menkes syndrome and Wilson disease are caused by excess of copper in human body which leads to liver and brain damage (Brewer 2012). Copper toxicity in mammals also include health hazards such as liver cirrhosis, necrosis in kidneys and brain, skin lesions, low blood pressure and fetal mortality (Gaggelli et al. 2006, Kapoor et al. 2014). Excess of copper in water may harm marine and freshwater organisms such as fishes and mollusks. Increased concentration of copper in fishes and other aquatic creatures cause damage to gills, liver, kidneys, sense of smell (in fish) and the nervous system (McIntyre et al. 2008).
The treatment of hepatocellular carcinoma with SP94 modified asymmetrical bilayer lipid-encapsulated Cu(DDC)2 nanoparticles facilitating Cu accumulation in the tumor
Published in Expert Opinion on Drug Delivery, 2023
Hao Liu, Yihan Kong, Xue Liang, Zixu Liu, Xueting Guo, Bing Yang, Tian Yin, Haibing He, Jingxin Gou, Yu Zhang, Xing Tang
Copper is an essential endogenous element in vivo [16]. However, disorders of copper metabolism may lead to a variety of diseases in humans. For instance, the copper deficiency will cause Menkes syndrome [38]. Conversely, copper overload could result in highly toxic and cellular damage due to the oxidative stress caused by redox reactions of copper with oxygen [39]. Thus, the uptake ability of copper ions for HepG2 cells was examined, and the results are presented in Figure S6.