Paediatrics: Phenylketonuria (PKU): Free MSRA Podcast

⚕️ FREE MSRA PODCAST – Phenylketonuria (PKU)🎧 A clear, high-yield breakdown of this inherited metabolic disorder – perfect for exam prep and real-life paediatrics.🧠 Key Learning Points📌 Definition• PKU is a rare autosomal recessive condition where the body can’t break down phenylalanine due to PAH enzyme deficiency, leading to toxic build-up.📌 Causes & Risk Factors• PAH gene mutations on chromosome 12• Autosomal recessive inheritance• More common in Northern European and Turkish populations• Family history is a key risk factor🧠 Mnemonic: PKU – Poor Kids metabolize Unsuccessfully📌 Pathophysiology• Phenylalanine hydroxylase (PAH) deficiency→ ↑ Phenylalanine→ Neurotoxicity + impaired neurotransmitters• In some cases, tetrahydrobiopterin (BH4) deficiency (malignant PKU) is the cause📌 Symptoms• Normal at birth• Gradual onset:– Developmental delay– Seizures– Fair hair/skin– Musty/mousy body odour– Behavioural issues (hyperactivity, autism-like features)– Eczema📌 Differential Diagnosis• Mild PKU (HPA)• BH4 deficiency• Tyrosinaemia• Maple syrup urine disease• Liver disease• Maternal PKU (mother has uncontrolled PKU in pregnancy)📌 Diagnosis• Newborn blood spot test (heel prick)• ↑ Phenylalanine (>120 µmol/L)• Confirm with plasma amino acid analysis• Genetic testing (PAH mutations)• Assess BH4 metabolism if malignant PKU suspected📌 Management• Lifelong low-phenylalanine diet– Avoid high-protein foods– Use phenylalanine-free formulas & medical foods– Avoid aspartame (contains phenylalanine)• Regular blood monitoring• Supplements: tyrosine, vitamins, minerals• Sapropterin (BH4) for responsive cases• Multidisciplinary team: metabolic specialist, dietitian, psychologist, genetic counsellor• Pregnancy: strict control of maternal levels to prevent fetal harm📌 Complications• Severe intellectual disability• Seizures, microcephaly• Behavioural disorders (ADHD, autism spectrum)• Maternal PKU syndrome: fetal anomalies if untreated in pregnancy• Neuroregression in adults who stop diet📌 Prognosis• Excellent with early diagnosis and dietary control• Normal IQ and development possible• Requires lifelong monitoring and support📎 More MSRA Resources for Phenylketonuria📝 Revision Notes:https://www.passthemsra.com/topic/phenylketonuria-revision-notes/🧠 Flashcards:https://www.passthemsra.com/topic/phenylketonuria-flashcards/💬 Accordion Q&A Notes:https://www.passthemsra.com/topic/phenylketonuria-accordion-qa-notes/🚀 Rapid Quiz:https://www.passthemsra.com/topic/phenylketonuria-rapid-quiz/🎓 Full Course:https://www.passthemsra.com/courses/paediatrics-for-the-msra/📝 Quiz Access:https://www.passthemsra.com/quizzes/phenylketonuria/Hashtags#MSRA #MSRARevision #MSRATextbook #MSRAQuiz #MSRAQuestionBank #MSRAFlashcards #MSRAQandANotes #MSRAAccordions #MultiSpecialityRecruitmentAssessment #MSRAOnlineRevision #MSRARevisionWebsite #Paediatrics #Phenylketonuria #PKU #NewbornScreening