A child with kinky hair, intellectual disability, seizures. What is the diagnosis?
High-Yield Explanation
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.