๐Ÿงฌ Chapter 405: Metabolic Diseases of the Liver

Nelson Textbook of Pediatrics 22nd Edition โ€” Key metabolic liver diseases: Wilson disease (ATP7B, Kayser-Fleischer rings, low ceruloplasmin, chelation), ฮฑ1-antitrypsin deficiency (PiZZ, PAS-positive globules), tyrosinemia type I (succinylacetone, nitisinone), galactosemia (reducing substances, lactose-free), hereditary fructose intolerance (aldolase B), glycogen storage diseases (hypoglycemia, hepatomegaly), Crigler-Najjar syndromes (unconjugated hyperbilirubinemia), GALD (neonatal hemochromatosis), Niemann-Pick type C, Gaucher, bile acid synthesis defects (cholic acid therapy).

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๐Ÿ“‹ 30 Clinical Scenarios โ€” Metabolic Liver Diseases

๐Ÿ“‡ Highโ€‘Yield Review Cards (Metabolic Liver Diseases)

๐Ÿฉบ Clinical Presentations: Metabolic Liver Diseases

Select a presentation for diagnostic clues and management.

๐Ÿ“‹ Stepwise Approach to Metabolic Liver Diseases

๐Ÿ”‘ Key Principles โ€” Metabolic Liver Disease (Nelson Ch.405)
โ€ข Wilson disease: low ceruloplasmin, Kayser-Fleischer rings, high urinary copper. Treatment: trientine/penicillamine + zinc.
โ€ข Tyrosinemia type I: succinylacetone in urine โ†’ nitisinone (NTBC) + dietary restriction.
โ€ข Galactosemia: reducing substances in urine, E. coli sepsis โ†’ immediate lactose/galactose restriction.
โ€ข ฮฑ1-Antitrypsin deficiency: PiZZ genotype, PAS-positive globules. Liver transplant for ESLD.
โ€ข Bile acid synthesis defects: low GGT, abnormal urine bile acids โ†’ cholic acid therapy.

    โšก Reflex Prompts โ€” Clinical Decision Making in Metabolic Liver Disease

    ๐Ÿ“– Metabolic Diseases of the Liver โ€” Core Summary (Nelson Ch.405)