Metabolic Disorders in the Liver

  • Masaki IwaiEmail author
  • Atsushi Kitamura
  • Hajime Isomoto
  • Yutaka Horie
  • Wilson M. S. Tsui


Iron overload, or siderosis, is a commonly encountered problem in clinical practice and may be classified as primary (genetic) or secondary to other diseases, such as hereditary anemias (Table 12.1). Dietary iron is absorbed primarily by enterocytes in the duodenum, transported from the intestine to the portal blood stream (where it is bound to apotransferrin), and transported to the liver. It is, therefore, not surprising that excessive deposition of iron in liver is commonly encountered in liver biopsies.


Iron overload Hereditary hemochromatosis Secondary hemochromatosis Transfusion iron overload Liver fibrosis Differential diagnosis of hemochromatosis Wilson’s disease Non-Wilson’s disease form of copper toxicosis Indian childhood cirrhosis Idiopathic copper toxicosis Menkes disease Porphyria Acute intermittent porphyria Cutaneous porphyria Amyloidosis Anorexia nervosa Glycogen storage disease Citrullinemia 



Acute intermittent porphyria


δ-aminolevulinic acid


Alkaline phosphatase


Adenosine triphospholic acid 7B


Adult-onset type II citrullinemia


Erythropoietic protoporphyria


Failure to thrive and dyslipidemia caused by citrin deficiency


Hereditary hemochromatosis


Human leukocyte antigen


Liver stellate cells


Reduced nicotinamide adenine dinucleotide


Neonatal intrahepatic cholestasis caused by citrin deficiency




Porphyria cutanea tarda


Transferrin receptor 2



Emeritus Professor Hisao Hayashi in Aichi Gakuin University School of Pharmacy and Dr. Hironori Mitsuyoshi in Kyoto Chubu Medical Center are acknowledged for their help in editing content of hemochromatosis and Wilson’s or other copper-related diseases.


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Copyright information

© Springer Nature Singapore Pte Ltd. 2019

Authors and Affiliations

  • Masaki Iwai
    • 1
    Email author
  • Atsushi Kitamura
    • 2
  • Hajime Isomoto
    • 3
  • Yutaka Horie
    • 2
  • Wilson M. S. Tsui
    • 4
  1. 1.KyotoJapan
  2. 2.ShimaneJapan
  3. 3.TottoriJapan
  4. 4.Hong KongChina

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