Phenylketonuria & Cystic Fibrosis | Inborn Errors of Metabolism NEET Class 12 | Neela Bakore
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Phenylketonuria (PKU) and Cystic Fibrosis — two key autosomal recessive disorders in detail.
📌 Topics Covered:
• PKU: phenylalanine hydroxylase deficiency → brain damage; neonatal screening
• Cystic Fibrosis: CFTR mutation → thick mucus in lungs, pancreas, gut
• Both autosomal recessive; comparison table
• NEET MCQ patterns for metabolic disorders
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Transcript with Timestamp
0:00 Introduction — PKU and Cystic Fibrosis
0:17 PKU (Phenylketonuria) — autosomal recessive disorder
0:43 Enzyme absent: Phenylalanine hydroxylase
1:19 Pathway: Phenylalanine → Tyrosine (blocked in PKU)
1:39 Phenylalanine accumulates → converted to Phenylpyruvic acid → brain damage
2:37 Babies born with PKU — metabolic disorder
2:50 Cystic Fibrosis (CF) — autosomal recessive disorder
3:37 Caused by deletion of nitrogen base
3:49 Accumulation of glycoproteins → thick mucus in liver, pancreas, respiratory tract
4:41 Transmembrane conduction protein affected → chloride ion transport impaired
5:37 Sweat becomes saltier (↑ NaCl)
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