[Hereditary storage diseases of the liver (author's transl)].
Storage diseases of the liver are reviewed, classified according to the clinical symptoms. Glycogen storage diseases go along with enlargement of the liver, - the size of the spleen being normal in the beginning; presenting symptoms in many cases are metabolic disturbances as for instance hypoglycemia. Acute symptoms due to derangement of liver function occur in galactosemia and in hereditary fructose intolerance when uptake of the hexoses is not tolerated. Splenomegaly and hepatomegaly are typical in certain lipid storage diseases; these diseases may as well exhibit hematologic symptoms. Bone dysplasias are discussed finally, which use to go along with enlargement of the liver due to storage of compounds not metabolized.
D001848:Bone Diseases, Developmental / Q000175:diagnosis; D002648:Child; D002675:Child, Preschool; D005260:Female; D005633:Fructose Intolerance / Q000175:diagnosis; D005693:Galactosemias / Q000175:diagnosis; D006008:Glycogen Storage Disease / Q000097:blood / Q000175:diagnosis*; D005953:Glycogen Storage Disease Type I / Q000175:diagnosis; D006009:Glycogen Storage Disease Type II / Q000175:diagnosis; D006010:Glycogen Storage Disease Type III / Q000175:diagnosis; D006013:Glycogen Storage Disease Type VI / Q000175:diagnosis; D006529:Hepatomegaly / Q000097:blood / Q000175:diagnosis; D006801:Humans; D008103:Liver Cirrhosis / Q000175:diagnosis; D008107:Liver Diseases / Q000097:blood / Q000175:diagnosis*; D008297:Male; D013163:Splenomegaly / Q000175:diagnosis
Hereditäre Speicherkrankheiten der Leber.