Humpath.com - Human pathology

Home > E. Pathology by systems > Digestive system > Liver and pancreatobiliary system > Liver > hepatic inherited metabolic diseases

hepatic inherited metabolic diseases

Wednesday 16 July 2003

Classification

- disorders of carbohydrate metabolism
- disorders of glycoprotein
- disorders of glycolipids
- endoplasmic reticulum storage diseases
- disorders of amino acids metabolism
- peroxsomal disorders
- mitochondrial cytopathies
- disorders of porphyrin metabolism
- disorders of metals metabolism
- disorders of bile acid metabolism
- disorders of bilirubin metabolism
- miscellaneous metabolic disorders of the liver

Lesional patterns

- hepatitic pattern

  • neonatal hepatitis
    • neonatal giant cell hepatitis

- cholestatic pattern

- ductopenic pattern

  • alpha1-antitrypsin deficiency
  • inborn errors of bile acid metabolism
  • peroxisomal diseases (cerebrohepatorenal syndrome, Zellweger syndrome)
  • coprostanic acidemia
  • Byler disease
  • cystic fibrosis

- steatotic pattern

  • inherited metabolic diseases
    • hereditary fructose intolerance
    • galactosemia
    • glycogen storage disease type I (GSD1)
    • glycogen storage disease type II (GSD2)
  • Wolman disease
  • cholesterol ester storage disease
  • mitochondrial respiratory chain diseases
  • fatty acid oxydation diseases
  • pyruvate carboxylase deficiency
  • pyruvate dehydrogenasedeficiency
  • neonatal adrenoleukodystrophy
  • infantile Refsum disease
  • herediatry tyrosinemia
  • Wilson disease
  • organic acidurias
  • urea cycle diseases

- hepatic storage diseases

- cirrhotic pattern (metabolic cirrhosis)

  • hereditary tyrosinemia
  • galactosemia
  • Wolman disease
  • cerebrohepatorenal syndrome (Zellweger syndrome)
  • glycogen storage disease type IV (GSD4)
  • indian childhood cirhosis
  • alpha-antitrypsin deficiency
  • Wilson disease
  • mitochondrial respiratory chain diseases
  • neonatal adrenoleukodystrophy
  • infantile Refsum disease
  • familial cholestatic syndromes
  • mucopolysaccharidoses
  • sialidosis
  • Gaucher disease
  • Niemann-Pick diseases
  • hemochromatosis

- tumoral pattern

  • focal nodular hyperplasia
    • glycogen storage type I (GSD1)
  • adenoma
    • glycogen storage type I (GSD1)
  • hepatoblastoma
    • glycogen storage type Ia (GSD1a)
  • regenerative nodule and hepatocellular carcinoma
    • tyrosinemia
    • glycogen storage type I (GSD1)
    • glycogen storage type Ia (GSD1a)
    • glycogen storage type IV (GSD4)
    • alpha-1-antitrypsin deficiency
    • hemochromatosis
    • galactosemia
    • familial cholestatic syndromes
    • Wilson disease
    • porphyria

References

- Inherited metabolic disease of the liver. Taddei T, Mistry P, Schilsky ML. Curr Opin Gastroenterol. 2008 May;24(3):278-86. PMID: 18408455

- Jevon GP, Dimmick JE. Histopathologic approach to metabolic liver disease: Part 1. Pediatr Dev Pathol. 1998 May-Jun;1(3):179-99. PMID: 10463278

- Jevon GP, Dimmick JE. Histopathologic approach to metabolic liver disease: Part 2. Pediatr Dev Pathol. 1998 Jul-Aug;1(4):261-9. PMID: 10463287

Portfolio