Management of Phenylketonuria: Current and Future Perspectives

Phenylketonuria (PKU) is an inborn error of phenylalanine (phe) and tyrosine (tyr) metabolism. It anautosomal recessive disease occurred due to deficiency liver enzyme hydroxylase (PAH).Hence, phe not converted tyr accumulated in the body. Phe thus channeled alternativeroutes metabolism forms Phenylketones excreted urine. Early treatment essential preventmental retardation other intellectual disabilities. Dietary remains main cornerstone tomanage PKU since last 3-4 decades. A diet low supplemented with special amino acids formulasmust be started soon after diagnosis within seven days life. Inspite good results obtained from dietarytreatment PKU, still there are some issues palatability dietary formulations. There alsoissues nutritional deficiencies vitamins like calcitriol cobalamin (B12). Poor cognitive executivefunctions have been observed patients who do follow proper treatment. Attempts alsobeen made increase food under management. Role large neutral acids(LNAAs) glycomacropeptides (GMP; found bovine milk) as a newer management explored. In recent era, advances terms genetic therapy replacement therapywhich opened new door towards PKU. this review, various aspects PKUare discussed