This fair-skinned child may be suffering with which of the following diseases?: (A) Von Gierke disease, (B) Alkaptonuria, (C) Albinism, (D) Tyrosinemia
Answer is C. Defect in Tyrosinase leads to Albinism, which presents with hypopigmentation. Von Gierke disease- doll like facies Alkaptonuria- grey discoloration of sclera, ear & nose cailage (ochronosis)