Amino Acid Disorders & The Urea Cycle — PKU, Homocystinuria & Hyperammonemia | USMLE Step 1

Master amino acid metabolism and the urea cycle for USMLE Step 1! This high-yield review covers the complete urea cycle (CPS I, OTC, ASS, ASL, Arginase), hyperammonemia treatment, PKU, maple syrup urine disease, homocystinuria vs Marfan syndrome, alkaptonuria, cystinuria, and Hartnup disease.

⏱️ Timestamps:
0:00 — Clinical Hook: OTC Deficiency
0:50 — The Urea Cycle (All 5 Enzymes)
2:25 — Urea Cycle Defects (OTC vs CPS I)
3:55 — Treating Hyperammonemia
5:10 — PKU & Maternal PKU
6:45 — MSUD & Homocystinuria
8:15 — Alkaptonuria, Cystinuria & Hartnup
9:40 — Pattern Recognition for Boards
10:20 — Rapid Review: Board Buzzwords

📚 Key Topics:
• CPS I — rate-limiting enzyme, requires NAG
• OTC deficiency — most common, X-linked, ↑orotic acid
• PKU — fair skin, musty odor, tyrosine becomes essential
• Maternal PKU — teratogenic (microcephaly, heart defects)
• MSUD — I Love Vermont, maple syrup smell, needs B1
• Homocystinuria — lens DOWN (vs Marfan UP), needs B6
• Cystinuria — hexagonal crystals, COLA amino acids
• Hartnup — pellagra symptoms, niacin treatment

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