Management of Phenylketonuria: Current and Future Perspectives


  • Tejas J. Shah1 , Dipika Baria2 , Shruti Brahmbhatt3 , DVSS Ramavataram4



Phenylketonuria, phenylalanine hydroxylase, phenylketones


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

Author Biography

Tejas J. Shah1 , Dipika Baria2 , Shruti Brahmbhatt3 , DVSS Ramavataram4

Associate Professor, Biochemistry, 2Assistant Professor, Physiology, 3Associate Professor, Pharmacology,
Professor and Head, Biochemistry, Smt. B. K. Shah Medical Institute and Research centre, Sumandeep Vidyapeeth
Deemed to be University, Vadodara, Gujarat (India)



How to Cite

Tejas J. Shah1 , Dipika Baria2 , Shruti Brahmbhatt3 , DVSS Ramavataram4. (2020). Management of Phenylketonuria: Current and Future Perspectives. Indian Journal of Forensic Medicine & Toxicology, 15(1), 347-352.