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)
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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
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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