Kinky Hair Disease

Aguilar, Mary Jane; Chadwick, David L.; Okuyama, Kazuo; Kamoshita, Shigehiko

doi:10.1097/00005072-196610000-00001

Cited by 119 publications

(6 citation statements)

References 0 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Urinary and blood urea are usually normal. Post-mortem reports in 12 previous cases (Menkes et al, 1962;Aguilar et al, 1966;Walker-Smith et al, 1973;Danks et al, 1972a) recorded no renal changes except for one child with terminal pyelonephritis. In our Case 1 there was ureteric reflux and hydronephrosis, in addition to a trabeculated bladder.…”

Section: Discussionmentioning

confidence: 85%

Menkes's steely hair syndrome.

Wheeler¹,

Roberts²

1976

Archives of Disease in Childhood

View full text Add to dashboard Cite

Section: Discussionmentioning

confidence: 85%

Menkes's steely hair syndrome.

Wheeler¹,

Roberts²

1976

Archives of Disease in Childhood

View full text Add to dashboard Cite

“…It seems the severity of the deficiency and the duration of the experiment are most critical. Localized neuronal degeneration has been reported in Menkes' disease (MENKES et al, 1962;AGUILAR et al, 1966).…”

Section: Discussionmentioning

confidence: 99%

Copper Deficiency in the Developing Rat Brain: A Possible Model for Menkes’ Steely‐hair Disease

Prohaska

Wells

1974

Journal of Neurochemistry

169

View full text Add to dashboard Cite

In comparison to controls, copper-deficient suckling rats showed an appreciable decrease in body growth, a slight decrease in whole brain and cerebellar growth, and a highly significant decrease in myclination based on the activity of cerebellar 2'.3'-cyclic nucleotide 3'-phosphohydrolase-a myelin cnriched protein. Specific effects of a fivefold reduction in the copper content of brain were seen in a drastic decrease in cerebellar cytochrome c oxidase and smaller but significant drops in cerebellar superoxide dismutase and brain norepinephrine concn. These observations are discussed with respect to the neuropathology and biochemistry of Menkes' steely-hair disease, a sex-linked recessive disorder in humans characterized by copper deficiency.

show abstract

“…There is widespread neuronal destruction in the cerebral cortex and the cerebellum, as well as associated gliosis [ 102–104 ]. Cerebellum changes are severe with neuronal loss in the granular cell layer and molecular layer.…”

Section: Copper Homeostasismentioning

confidence: 99%

Disorders of metal metabolism

Ferreira

Gahl

2017

TRD

View full text Add to dashboard Cite

Trace elements are chemical elements needed in minute amounts for normal physiology. Some of the physiologically relevant trace elements include iodine, copper, iron, manganese, zinc, selenium, cobalt and molybdenum. Of these, some are metals, and in particular, transition metals. The different electron shells of an atom carry different energy levels, with those closest to the nucleus being lowest in energy. The number of electrons in the outermost shell determines the reactivity of such an atom. The electron shells are divided in sub-shells, and in particular the third shell has s, p and d sub-shells. Transition metals are strictly defined as elements whose atom has an incomplete d sub-shell. This incomplete d sub-shell makes them prone to chemical reactions, particularly redox reactions. Transition metals of biologic importance include copper, iron, manganese, cobalt and molybdenum. Zinc is not a transition metal, since it has a complete d sub-shell. Selenium, on the other hand, is strictly speaking a nonmetal, although given its chemical properties between those of metals and nonmetals, it is sometimes considered a metalloid. In this review, we summarize the current knowledge on the inborn errors of metal and metalloid metabolism.

show abstract

Kinky Hair Disease

Cited by 119 publications

References 0 publications

Menkes's steely hair syndrome.

Menkes's steely hair syndrome.

Copper Deficiency in the Developing Rat Brain: A Possible Model for Menkes’ Steely‐hair Disease

Disorders of metal metabolism

Contact Info

Product

Resources

About