A child with kinky hair, intellectual disability, seizures. What is the diagnosis?
Down's syndrome
Menke's disease
Iron deficiency anemia
Lesch Nyhan syndrome
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.
Nutrition & Digestion