Continuing our 28 Days, 28 Rare Diseases campaign by KIMSHealth, Trivandrum, Kerala, India, today, we focus on Phenylketonuria (PKU)—a genetic metabolic disorder that affects how the body processes protein.

Dr. Roshan Daniel (MBBS, MD, DM Medical Genetics), one of India’s leading medical geneticists, has helped numerous families understand, diagnose, and manage PKU and other inherited metabolic disorders. Through newborn screening, genetic testing, and personalized dietary plans, our goal is to ensure that children diagnosed with PKU can grow up healthy with normal cognitive function.

What is Phenylketonuria (PKU)?

Phenylketonuria (PKU) is a rare inherited metabolic disorder caused by mutations in the PAH gene, which is responsible for producing phenylalanine hydroxylase (PAH)—an enzyme required to break down phenylalanine, an amino acid found in protein-rich foods like meat, eggs, dairy, nuts, and soy products.

Without PAH, phenylalanine builds up to toxic levels in the blood and brain, leading to:

✔ Intellectual disability (if untreated)

✔ Delayed speech and motor development

✔ Behavioral problems like hyperactivity and mood swings

✔ Seizures and neurological impairments

✔ A musty odor in breath, urine, or skin (due to excess phenylalanine)

✔ Eczema and other skin conditions

PKU is completely manageable if diagnosed early. Newborn screening is the key to ensuring children receive the right diet and medical care before symptoms develop.

Dr. Roshan Daniel’s Experience with Phenylketonuria (PKU)

In his clinical practice, Dr. Roshan Daniel has seen that most PKU cases are detected through newborn screening, where a simple heel-prick test identifies high phenylalanine levels. Other cases present later in infancy when parents notice developmental delays, speech problems, or seizures.

✅ Newborn screening has been instrumental in early detection, preventing permanent brain damage.

✅ Immediate dietary intervention with a low-phenylalanine diet and special supplements has completely prevented intellectual disability in diagnosed infants.

✅ Ongoing nutritional monitoring by a dietician trained in metabolic disorders, like we have at KIMSHealth, ensures that PKU children grow up healthy and active.

💡 Cost of Testing (as of February 2025):

✔ Newborn screening (heel-prick test): ₹5,000

✔ Genetic testing for PKU diagnosis: ₹20,000

✔ Prenatal genetic testing (amniocentesis) to check the unborn baby: ₹35,000

Advances in PKU Treatment & Management

While PKU requires lifelong management, modern treatments have transformed patient outcomes.

🔹 Strict Low-Protein Diet – Avoidance of high-protein foods is essential.

🔹 Special Medical Formula (Phe-Free Formula) – Provides essential nutrients without phenylalanine.

🔹 Enzyme Therapy (Pegvaliase) – Helps break down phenylalanine, reducing dietary restrictions.

🔹 Gene Therapy (Future Possibility) – Research is ongoing to restore PAH enzyme function, potentially curing PKU.

With early diagnosis and proper management, individuals with PKU can lead completely normal lives.

Frequently Asked Questions (FAQs) on Phenylketonuria

💡 What causes Phenylketonuria (PKU)?

PKU is caused by a mutation in the PAH gene, which prevents the breakdown of phenylalanine. Excess phenylalanine accumulates in the blood and brain, causing intellectual disability and neurological damage if untreated.

💡 Is Phenylketonuria inherited?

Yes. PKU follows an autosomal recessive inheritance pattern, meaning both parents must be carriers for a child to inherit the condition. If both parents are carriers, there is a 25% chance of the baby having PKU.

💡 Can Phenylketonuria be diagnosed before birth?

Yes. If a couple has a family history of PKU, we recommend:

✔ Carrier screening for both parents before conception

✔ Prenatal genetic testing (CVS or amniocentesis) during pregnancy

✔ Newborn screening (heel-prick test) immediately after birth

💡 Can individuals with PKU lead normal lives?

Absolutely! With strict diet control and modern therapies, children with PKU can:

✔ Achieve normal intelligence and cognitive development

✔ Perform well in school and professional careers

✔ Live an active and fulfilling life

💡 A patient diagnosed through newborn screening at birth was placed on a PKU diet immediately. Today, at age five, he is in school with completely normal intellectual function.

💡 What happens if PKU is not treated?

If left untreated, PKU leads to severe intellectual disability, seizures, behavioral issues, and permanent neurological damage.

✔ Children may lose their ability to walk, talk, or learn properly

✔ Severe mood disorders, hyperactivity, and aggression

✔ Increased risk of seizures and movement disorders

💡 The good news? Early intervention completely prevents these complications.

💡 Can PKU occur again in a future pregnancy?

Yes. If both parents are carriers, each pregnancy has a 25% chance of being affected.

✔ Amniocentesis (cost: ₹35,000) can detect PKU in the unborn baby

✔ IVF with Preimplantation Genetic Diagnosis (PGD) can ensure only healthy embryos are implanted

💡 We have successfully helped many families prevent PKU in future pregnancies using these advanced reproductive techniques.

Genetic Testing and Counselling for Phenylketonuria

At KIMSHealth, Trivandrum, under the leadership of Dr. Roshan Daniel, we offer comprehensive genetic care for PKU and other metabolic disorders. Our services include:

✔ Newborn screening and early PKU detection

✔ Genetic testing for PKU diagnosis and risk assessment

✔ Carrier screening for couples planning pregnancy

✔ Personalized dietary and medical management plans

✔ Online genetic consultations for remote patients

If you have concerns about PKU, newborn screening, or a family history of metabolic disorders, early genetic testing and expert consultation can prevent serious complications.

Join Us in Spreading Awareness!

Phenylketonuria is a manageable disorder, and early diagnosis through newborn screening can prevent lifelong complications. Raising awareness about genetic testing, dietary therapy, and modern treatments can help families navigate this condition with confidence.

📢 No disease is too rare to care. Join us in spreading awareness and helping families access life-saving treatment for PKU.

For expert guidance on genetic testing, counselling, or PKU management, reach out to our center today! 💙