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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
Genetics and metabolic disorders
Published in Jagdish M. Gupta, John Beveridge, MCQs in Paediatrics, 2020
Jagdish M. Gupta, John Beveridge
Although the vast majority of inborn errors are inherited in an autosomal recessive manner, e.g. Tay Sachs disease, Fabry disease (which is due to a deficiency of alpha-galactosidase), G6PD deficiency, Menkes' disease and Lowe syndrome are X-linked. Menkes disease is due to a defective Copper transport protein and Lowe syndrome is due to deficiency of inositol phosphate phosphatase.
Diseases of the Nervous System
Published in George Feuer, Felix A. de la Iglesia, Molecular Biochemistry of Human Disease, 2020
George Feuer, Felix A. de la Iglesia
Menkes’ disease is characterized by peculiar hair (kinky-hair syndrome), neurological impairment, and severe mental retardation. The cerebral cortex and white matter are extensively degenerated. Copper levels are low in the liver and brain, and high in other tissues. It is likely that the disease is due to defects in the homeostatic control of copper metabolism. There is a relative deficiency of copper-dependent enzymes related to abnormal and metallothionein gene regulation in response to copper.358 In Menkes’ disease, metallothionein synthesis is defective, which binds copper, and other metallothionein binding metals (mercury, cadmium, zinc) are increased. Abnormalities include increased levels of serum lipids.72
Oliver McFarlane syndrome: two new cases and a review of the literature
Published in Ophthalmic Genetics, 2021
Kristian Lisbjerg, Mette K. G. Andersen, Mette Bertelsen, Agnes G. Brost, Frederik F. Buchvald, Rikke B. Jensen, Anne-Marie Bisgaard, Thomas Rosenberg, Zeynep Tümer, Line Kessel
Parents noticed visual difficulties from the age of two. At the age of three years, the patient underwent an ophthalmological examination at which point poor visual acuity equivalent to 20/200 (binocular) and a pale fundus with peripheral pigmentations was noted. The signs of severe chorioretinal degeneration were confirmed with ff-ERG that showed extinguished dark-adapted single flash and only a slight residual flicker response indicating absent rod function and very limited cone function. Complete night blindness was reported. The diagnosis at this point was early-onset retinitis pigmentosa. Fundoscopic findings were described as choroideremia-like. Due to dysmorphic features (Figure 1), growth retardation, and retinal degeneration a syndrome was suspected, and in the following years several clinical investigations were performed in the pursuit of a more exact diagnose. Chromosome analysis showed a normal female karyotype, 46,XX. The hair was examined for suspected Menkes disease or trichothiodystrophy but with no conclusive findings. At the age of three, thyroidal parameters were normal and clonidine stimulation of growth hormone (GH) also showed a normal result. Growth retardation persisted and by the age of 10, treatment with GH was initiated and she ended up with an adult height of 158 cm.
Impaired copper transport in schizophrenia results in a copper-deficient brain state: A new side to the dysbindin story
Published in The World Journal of Biological Psychiatry, 2020
Kirsten E. Schoonover, Stacy L. Queern, Suzanne E. Lapi, Rosalinda C. Roberts
Copper plays a key role in development and homeostatic function and is crucial for many cellular functions including monoamine metabolism, mitochondrial activity and myelination (Sato et al. 1994). While copper and its enzymes are found outside of the brain, we will focus on brain. Copper dysfunction results in Wilson’s or Menkes disease, characterised by copper toxicity or deficiency, respectively (Wilson 1934; Menkes et al. 1962). Cellular copper is highly regulated, as free copper can induce oxidative stress and cellular damage (Halliwell and Gutteridge 2007). During normal function, copper is taken from the bloodstream across the blood–brain barrier (BBB) into astrocytes and then neurons via CTR1 at the plasma membrane (Scheiber et al. 2010). Once inside the cell, copper is bound by metallochaperones (Maryon et al. 2013) and delivered to the trans-Golgi network (TGN). ATP7A is located within the TGN (Yamaguchi et al. 1996) and distributes copper to metallochaperones (e.g., SCO1), which transport the copper to their needed location within the cell (e.g., mitochondria) ( Leary et al. 2007; Davies et al. 2013). CTR1 knockdown and/or loss results in developmental defects and lethality (Lee et al. 2001), and total loss of ATP7A results in Menkes disease and lethality (Menkes et al. 1962), exemplifying the incredible importance of these transporters in homeostasis and function.
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
Menkes disease, first described in 1962 by Menkes et al., is yet another, rare X-linked recessive disturbance in copper metabolism and distribution characterized by ATP7A mutation, which plays a pivotal role in axonal outgrowth, synapse integrity, and neuronal activation [11]. Like HA, Menkes also has variation in presentations and can range anywhere from mild mental retardation to severe neuropsychiatric debility. Any hematopoietic effects, though, are not reported in Menkes disease [6,8,11].