A child with kinky hair, intellectual disability, seizures. What is the diagnosis?
Correct Answer: Menke's disease
Description: Ans. B. Menke's DiseaseMenke's (Kinky or Steely) Hair SyndromeMutation in ATP7A geneX-linked recessive conditionDefective Copper binding P type ATPaseCopper is not mobilised from Intestine.Deficiency of Xanthine oxidase.
Category:
Biochemistry
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