By Disease Name > Menke's Kinky Hair syndrome

Menke's Kinky Hair syndrome

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X-linked recessive
defective gene encodes Cu-transport ATPase (affects intestinal transport of Cu)
X-linked cutis laxa (type IX ED) = same defect, different phenotype
hair shaft abnormality = pili torti
skin lax “doughy” skin
lab decreased serum copper, decreased serum ceruloplasmin = diagnostic
prognosis copper replacement is ineffective at preventing the inevitable lethal neurologic decline; death by 2-3 years of age
phenotype reflects deficiency of copper dependent enzyme activity in various systems