MELANIN pigment is the end product of a series of complicated chemical reactions involved in phenylalanine-tyrosine metabolism. Recessive hereditary defects breaking this chain produce phenylketonuria, albinism and alcaptonuria. Phenylketonuria was discovered through its musty smell and alcaptonuria produces a distinctive bodily odor. The presence of the chain amino acids valine, leucine and isoleucine in Maple syrup disease is accompanied by the unique scent that confers its name. A criterion in the diagnosis of cystinuria is the characteristic, repulsive odor of cadaverine and putrescine. © 1968 by the American Genetics Association.