‘Kinky hair’ disease sheds light on copper metabolism

1993 ◽  
Vol 3 (1) ◽  
pp. 3-4 ◽  
Author(s):  
Dean H. Hamer
Keyword(s):  
Copper Metabolism ◽  
Kinky Hair Disease ◽  
Kinky Hair

Copper Metabolism in the Macular Mutant Mouse: An Animal Model of Menkes’s Kinky-Hair Disease

Neonatology ◽  
1988 ◽  
Vol 54 (3) ◽  
pp. 173-180 ◽  
Author(s):  
Noriyuki Shiraishi ◽  
K. Aono ◽  
T. Taguchi
Keyword(s):  
Animal Model ◽  
Mutant Mouse ◽  
Copper Metabolism ◽  
Kinky Hair Disease ◽  
Kinky Hair

Menkes Kinky Hair Disease with ‘Ragged Red’ Fibers

2008 ◽  
Vol 30 (6) ◽  
pp. 812-816 ◽  
Author(s):  
Susan Morgello ◽  
Hart de C. Peterson ◽  
Leonard J. Kahn ◽  
Hilda Laufer
Keyword(s):  
Ragged Red Fibers ◽  
Kinky Hair Disease ◽  
Menkes Kinky Hair Disease ◽  
Kinky Hair

Cytochrome c oxidase deficiency in menkes kinky hair disease

1983 ◽  
Vol 5 (6) ◽  
pp. 533-540 ◽  
Author(s):  
Mitsuo Maehara ◽  
Nobuaki Ogasawara ◽  
Naoki Mizutani ◽  
Kazuyoshi Watanabe ◽  
Sakae Suzuki
Keyword(s):  
Cytochrome C ◽  
Cytochrome C Oxidase ◽  
Oxidase Deficiency ◽  
Cytochrome C Oxidase Deficiency ◽  
Kinky Hair Disease ◽  
Menkes Kinky Hair Disease ◽  
Kinky Hair

scholarly journals Menkes kinky hair disease: Role of dermatologist

2017 ◽  
Vol 0 (0) ◽  
pp. 0
Author(s):  
BelaJaswantlal Shah ◽  
Ashish Jagati ◽  
Rutu Joshi
Keyword(s):  
Kinky Hair Disease ◽  
Menkes Kinky Hair Disease ◽  
Kinky Hair

MENKES'S KINKY HAIR SYNDROME

PEDIATRICS ◽  
1972 ◽  
Vol 50 (2) ◽  
pp. 188-201 ◽  
Author(s):  
David M. Danks ◽  
Peter E. Campbell ◽  
Brian J. Stevens ◽  
Valerie Mayne ◽  
Elizabeth Cartwright
Keyword(s):  
Cerebral Arteries ◽  
Copper Metabolism ◽  
Serum Copper ◽  
Clinical Feature ◽  
Cystic Degeneration ◽  
Internal Elastic Lamina ◽  
Arterial Walls ◽  
Complete Obliteration ◽  
Kinky Hair ◽  
Kinky Hair Syndrome

Seven new cases of Menkes's kinky hair syndrome are described from five families. These patients were seen in a period of 3 years in Melbourne and the frequency of the disease is estimated to be 1 in 35,000 live births. Seven other affected males were present in these families and each pedigree was compatible with X-linked inherintance. Hypothermia was noted to be an important clinical feature which has escaped previous attention. Widespread arterial tortuosity and variation in the lumen of arteries has been demonstrated by arteriography and by microscopic examination at necropsy. Fragmentation of the internal elastic lamina is seen in the arterial walls with thickening of the intima in the most severely affected vessels. This process can lead to complete obliteration of major arteries. Involvement of cerebral arteries is the probable cause of the gliosis and cystic degeneration seen in the brain. Metachromasia was observed in fibroblasts cultured from patients and from heterozygous females. Low levels of serum copper and ceruloplasmin were found in all patients studied and a defect in the intestinal absorption of copper has been demonstrated. This appears to be the basic defect in the disease and copper deficiency provides an adequate explanation of all the features of the disease. Parenteral administration of copper may prove therapeutically effective. These findings suggest many new lines of research on copper metabolism and trace metal deficiency.

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