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| | Age at onset (ys) | Pathogenic mechanism of liver damage | Laboratory diagnosis | Molecular genetics |
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| Alpha-1 antitrypsin deficiency | 40–50 | Accumulation of AAT polymers in hepatocytes | Low serum AAT; AAT alleles by isoelectric focusing | 120 allelic variants in SERPINA1 gene; ZZ genotype associated with liver cirrhosis |
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| Cystic fibrosis | 0–12 | Altered activity of CFTR; increased bile flow that causes cholangitis and fibrosis | Sweat test | About 2000 known mutations in CFTR gene; no mutation specific for liver disease |
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| Wilson disease | 20–22 | Copper hepatocyte increased levels dislocate the ATP7B protein impairing copper excretion through the bile | Low serum ceruloplasmin; high urine copper | About 300 known mutations in ATP7B gene; severe mutations (nonsense, frameshift) are associated with liver disease |
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| Hereditary hemochromatosis | 30–50 | Iron-induced lipid peroxidation causes hepatocellular injury | Enhanced serum ferritin; high transferrin saturation | p.C282Y in HFE gene associated with liver cirrhosis |
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| Type I tyrosinemia | Variable | The metabolite succinylacetone accumulates, resulting in toxicity to liver | Enhanced plasma/urine succinylacetone; high plasma tyrosine, methionine, and phenylalanine | Most frequent mutations analysis in FAH gene; no mutation specific for liver disease |
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| Glycogen storage disease type IV | Variable | The altered stored glycogen impairs the osmotic pressure within the hepatocyte | / | Sequence analysis in GBE1 gene; no mutation specific for liver disease |
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| Argininosuccinate lyase deficiency | 0–15 | Decreased endogenous synthesis of arginine that leads to a decrease in arginine metabolites in various tissues | High serum citrulline; increased argininosuccinic acid in plasma/urine | ASL exons 4, 5, and 7 are hotspots of most frequent mutations; no mutation specific for liver disease |
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| Citrin deficiency | NICCD: 0-1; CTLN2: 20–40 | Defective aspartate export from the mitochondria to the cytosol and defects in the malate aspartate shuttle | Enhanced plasma ammonia, citrulline, and arginine. NICCD: high plasma threonine, methionine, tyrosine, bilirubin, and bile acids | Sequence analysis in SLC25A13 gene; no mutation specific for liver disease |
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| Cholesteryl ester storage disease | 0–20 | Accumulation of cholesteryl esters and triglycerides in lysosomal hepatocytes | High serum AST, ALT, cholesterol, and low HDL cholesterol | About 40 mutations in LIPA gene; (exons 16, 10, and 8 are hotspots of mutations); no mutation specific for liver disease |
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| Alström syndrome | Variable | Unclear mechanism | / | About 80 mutations in ALMS1 gene; no mutation specific for liver disease |
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| Congenital hepatic fibrosis | Variable | Immature duct structures stimulate the formation of portal fibrous tissue | / | The disease gene is unknown |
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| Hereditary fructose intolerance | Variable | Accumulation of fructose in hepatocytes; fibrosis | Breath test | About 45 known mutations in ALDOB gene; no mutation specific for liver disease |
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| Progressive familial intrahepatic cholestasis type 3 | 0–20 | The defect of MDR3 results in impaired biliary phospholipid excretion that impairs bile formation | High serum -GT activity, normal serum cholesterol and moderately raised bile salts concentrations | Most of known mutations in ABCB4 are point mutations |
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