This fair-skinned child may be suffering with which of the following diseases?
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)
Von Gierke disease
Alkaptonuria
Albinism
Tyrosinemia
Disorders of Amino acid Metabolism