USMLE STEP 1 Disorders of Metabolism Questions and Answers with Complete Solutions 2024

USMLE STEP 1 Disorders of Metabolism Questions and Answers with Complete Solutions 2024 Pyruvate Dehydrogenase Complex Deficiency - ANSbuildup of pyruvate, which gets shunted to alanine (via ALT) and lactase (via LDH) Treatment of Pyruvate Dehydrogenase Complex Deficiency - ANSlysine and leucine G6PD Deficiency - ANSabsence of G6PD leads to NADPH deficiency -> NADPH deficiency leads to inability to reduce glutathione via glutathione reductase -> No reduced glutathione means no defense against free radicals via glutathione peroxidase Oxidizing Agents that damage cells in G6PD Deficiency - ANSfava beans sulfonamides primaquine anti-TB drugs infection G6PD deficiency inheritance pattern - ANSx-linked Essential Fructosuria: absent enzyme - ANSfructokinase Essential Fructosuria symptoms - ANSnone Fructose Intolerance: absent enzyme - ANSaldolase