PKU (Phenylketonuria) is a rare genetic condition where the body cannot break down an amino acid called phenylalanine (Phe), which is found in most protein-containing foods. When Phe builds up in the blood, it can damage the brain and nervous system. Reassuring fact: PKU is quite rare in India (much rarer than in Western countries), but screening is still important because early detection and treatment can completely prevent the complications.

Why PKU Screening is Important?

Without treatment, PKU can cause: Intellectual disability • Intellectual disability Developmental delays • Developmental delays Behavioral problems • Behavioral problems Seizures • Seizures Skin problems • Skin problems With early detection and treatment: Children can develop normally • Children can develop normally Intelligence is preserved • Intelligence is preserved Live completely healthy lives • Live completely healthy lives Attend regular school and lead normal lives • Attend regular sc...

The PKU test is part of newborn screening (often called the "heel prick test" or "Guthrie test"). How it's done: A few drops of blood are collected from baby's heel • A few drops of blood are collected from baby's heel Blood is placed on special filter paper • Blood is placed on special filter paper Sent to laboratory for testing • Sent to laboratory for testing Results usually available in a few days • Results usually available in a few days

Timing: 24-72 hours after birth • Timing: 24-72 hours after birth Why this timing: Baby needs to have started feeding (maa ka doodh or formula) so phenylalanine is in their system • Why this timing: Baby needs to have started feeding (maa ka doodh or formula) so phenylalanine is in their system If done too early: May need to repeat the test • If done too early: May need to repeat the test

Most major hospitals include PKU in newborn screening • Most major hospitals include PKU in newborn screening In India, coverage varies - ask your hospital if it's included • In India, coverage varies - ask your hospital if it's included Some states have mandatory newborn screening programs • Some states have mandatory newborn screening programs Private labs can also perform the test if needed • Private labs can also perform the test if needed

Contact your pediatrician immediately if: Test results show elevated phenylalanine • Test results show elevated phenylalanine Baby is showing developmental concerns • Baby is showing developmental concerns You're unsure if newborn screening was done • You're unsure if newborn screening was done Family history of PKU or metabolic disorders • Family history of PKU or metabolic disorders For ongoing PKU management: Regular follow-up with metabolic specialist • Regular follow-up with metabolic sp...

Q: Kya PKU test sab hospitals mein hota hai?

A: Not all hospitals in India routinely perform PKU screening. Major private hospitals usually include it in newborn screening packages. Government hospitals in some states have screening programs. Ask your hospital specifically if PKU was included. If not done, you can get it from a private lab within the first week.

Q: Mera baby PKU positive aaya - ab kya karun?

A: First, don't panic. A positive screening result needs confirmatory testing. Many initial positive results turn out to be false positives. Your doctor will order repeat testing. If confirmed, you'll be referred to a metabolic specialist who will guide you on the special diet. With proper management, children with PKU develop normally.

Q: Can I breastfeed if my baby has PKU?

A: Yes! Maa ka doodh can continue, but in measured amounts combined with special PKU formula. Breast milk has less phenylalanine than regular formula, so it's actually beneficial. Your dietitian will tell you exactly how much breastfeeding and formula to give.

A: PKU is a lifelong genetic condition and cannot be cured. However, it is completely manageable with strict dietary control. Children who follow the diet properly can have normal intelligence and lead healthy lives. Some medications are now available that may help increase tolerance to phenylalanine.

Phenylketonuria (PKU) Screening for a Newborn

Last updated: January 2026

Quick Answer

PKU (Phenylketonuria) screening is a simple blood test done on all newborns within 24-72 hours of birth to detect a rare but serious metabolic disorder. While PKU is uncommon in India, early detection through this test can prevent severe intellectual disability and developmental problems. If your hospital performed a heel prick test on your baby, PKU screening was likely included.