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.
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