โšก Chapter 409: Mitochondrial Hepatopathies

Nelson Textbook of Pediatrics 22nd Edition โ€” Mitochondrial hepatopathies result from defects in oxidative phosphorylation. Primary: mtDNA depletion syndromes (DGUOK, MPV17, POLG), Alpers syndrome (POLG), Pearson syndrome (mtDNA deletion), GRACILE syndrome (BCS1L), Navajo neurohepatopathy (MPV17). Secondary: Reye syndrome (salicylate + virus), valproate hepatotoxicity (avoid in POLG mutations). Clinical: lactic acidosis, hypoglycemia, microvesicular steatosis, acute liver failure, neurologic involvement.

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๐Ÿ“‹ 30 Clinical Scenarios โ€” Mitochondrial Hepatopathies

๐Ÿ“‡ Highโ€‘Yield Review Cards (Mitochondrial Hepatopathies)

๐Ÿฉบ Clinical Presentations: Mitochondrial Hepatopathies

Select a presentation for diagnostic clues and management.

๐Ÿ“‹ Stepwise Evaluation & Management of Mitochondrial Hepatopathies

๐Ÿ”‘ Key Principles โ€” Mitochondrial Hepatopathies (Nelson Ch.409)
โ€ข Diagnosis: Unexplained liver failure + lactic acidosis + neurologic symptoms + microvesicular steatosis on biopsy. Lactate/pyruvate ratio >25.
โ€ข Primary mtDNA depletion: DGUOK, MPV17, POLG, SUCLG1. Alpers syndrome (POLG): refractory seizures, developmental regression, liver failure. Avoid valproate (can precipitate fatal liver failure).
โ€ข Pearson syndrome: sideroblastic anemia, pancreatic insufficiency, mtDNA deletion.
โ€ข Reye syndrome: acute encephalopathy + fatty liver, associated with aspirin use during viral illness (influenza/varicella).
โ€ข Treatment: supportive; avoid valproate, metformin; liver transplantation generally contraindicated if significant neurologic disease.

    โšก Reflex Prompts โ€” Mitochondrial Hepatopathies Clinical Decisions

    ๐Ÿ“– Mitochondrial Hepatopathies โ€” Core Summary (Nelson Ch.409)