Rare Disease Show - Episode 25: Understanding Phenylketonuria ft Dr Roshan Daniel, KIMSHEALTH

Medical Dialogues presents a rare disease series, delving into the realm of uncommon medical conditions. Rare diseases are medical conditions that affect only a small percentage of the population.

Throughout this series, we'll discuss these rare diseases in various episodes, with medical experts providing clear explanations and insights.

Rare Disease Show Episode 25: In today's show we will cover Phenylketonuria.

Phenylketonuria (PKU) is a rare inherited metabolic disorder in which the body cannot break down an amino acid called phenylalanine due to a deficiency of the enzyme phenylalanine hydroxylase.

If untreated, phenylalanine builds up in the blood and can cause intellectual disability, developmental delays, and other neurological problems.

PKU is usually detected through newborn screening and managed with a strict low-phenylalanine diet to prevent complications. Early diagnosis and treatment are crucial for normal development.

In this episode, Dr Roshan Daniel, Associate Consultant in Medical Genetics, KIMSHEALTH Trivandrum shares his insights by addressing questions asked by the Medical Dialogues team:

1. What is the genetic basis of Phenylketonuria, and how is it inherited?

2. What are the earliest clinical signs of untreated PKU in infants? How is PKU typically diagnosed through newborn screening?

3. What does lifelong dietary management for PKU typically involve?

4. Are there any promising pharmacological treatments beyond dietary restriction?

5. How do you manage PKU in special populations like pregnant women or adolescents?

6. What role do sapropterin (BH4) and gene therapy play in current treatment protocols?

7. What are the latest advancements in gene therapy or enzyme replacement for PKU?

8. How is CRISPR being explored for potential PKU correction?

9. How effective are newborn screening programs in detecting PKU globally?