Full formMedical & Health
PKUstands forPhenylketonuria
Full Form of PKU
What is PKU?
Phenylketonuria (PKU) is a rare inherited genetic disorder that affects the way the body processes the amino acid phenylalanine, which is found in protein-rich foods. In India, the condition is a key focus of newborn screening programmes, especially in states like Tamil Nadu, Karnataka, and Kerala, where state-run initiatives test for PKU alongside other congenital disorders. If left undiagnosed and untreated, phenylalanine accumulates to toxic levels in the blood, causing irreversible intellectual disability, seizures, and developmental delays. Treatment involves a strict lifelong low-phenylalanine diet, special medical formulas, and regular monitoring to maintain safe blood levels. PKU is caused by mutations in the PAH gene, which disrupts the production of the enzyme phenylalanine hydroxylase. In the Indian context, awareness and access to dietary management products remain uneven, though the Rashtriya Bal Swasthya Karyakram (RBSK) includes PKU under its list of identifiable conditions at birth. Medical exams such as NEET PG and AIIMS often include PKU in questions related to inborn errors of metabolism, making it an important topic for aspirants. Early detection through heel-prick testing within 48–72 hours of birth is critical for preventing neurological damage, and affected individuals who adhere to dietary restrictions can lead normal lives.
PKU का फुल फॉर्म
फेनिलकेटोन्यूरिया
Example
The newborn screening panel at the district hospital confirmed that the infant had PKU, and the dietitian immediately started them on a phenylalanine-restricted formula.
PKU — frequently asked questions
What is the full form of PKU?
The full form of PKU is Phenylketonuria, an inherited metabolic disorder that prevents the body from breaking down the amino acid phenylalanine.
Is PKU curable in India?
PKU is not curable, but it is manageable with a strict low-phenylalanine diet and special medical formulas. Early detection through newborn screening is crucial for preventing intellectual disability.
What is the PKU test done in Indian hospitals?
The PKU test is a heel-prick blood test performed 48–72 hours after birth to measure phenylalanine levels. It is part of newborn screening programmes in several Indian states.