Dtsch Med Wochenschr 2010; 135(50): 2540-2547
DOI: 10.1055/s-0030-1269424
Übersicht | Review article
Gastroenterologie
© Georg Thieme Verlag KG Stuttgart · New York

Stoffwechselerkrankungen der Leber

Teil 2: Glykogenosen, hereditäre Fruktoseintoleranz, Galaktosämie und hepatische PorphyrienMetabolic disorders of the liverPart 2: glykogen storage diseases, hereditary fructose intolerance, galactosemia and hepatic porphyrias M. G. Donner1 , A. Erhardt1 , D. Häussinger1
  • 1Klinik für Gastroenterologie, Hepatologie und Infektiologie, Universität Düsseldorf
Further Information

Publication History

eingereicht: 26.8.2010

akzeptiert: 8.10.2010

Publication Date:
07 December 2010 (online)

Literatur

  • 1 Acosta P B, Gross K C. Hidden sources of galactose in the environment.  Eur J Pediatr. 1995;  154 (Suppl 2) 87-92
  • 2 Alaupovic P, Fernandes J. The serum apolipoprotein profile of patients with glucose-6-phosphatase deficiency.  Pediatr Res. 1985;  19 380-384
  • 3 Andant C, Puy H, Bogard C, Faivre J et al . Hepatocellular carcinoma in patients with acute hepatic porphyria: frequency of occurrence and related factors.  J Hepatol. 2000;  32 933-939
  • 4 Anderson K E, Spitz I M, Bardin C W, Kappas A. A gonadotropin releasing hormone analogue prevents cyclical attacks of porphyria.  Arch Intern Med. 1990;  150 1469-1474
  • 5 Anderson K E, Bloomer J R, Bonkovsky H L et al. Recommendations for the diagnosis and treatment of the acute porphyrias.  Ann Intern Med. 2005;  142 439-450
  • 6 Bandsma R H, Prinsen B H, van Der Velden M S et al. Increased de novo lipogenesis and delayed conversion of large VLDL into intermediate density lipoprotein particles contribute to hyperlipidemia in glycogen storage disease type 1a.  Pediatr Res. 2008;  63 702-707
  • 7 Beaudet A L, Anderson D C, Michels V V et al. Neutropenia and impaired neutrophil migration in type 1B glycogen storage disease.  J Pediatr. 1980;  97 906-910
  • 8 Berry G T, Nissim I, Lin Z, Mazur A T, Gibson J B, Segal S. Endogenous synthesis of galactose in normal men and patients with hereditary galactosaemia.  Lancet. 1995;  346 1073-1074
  • 9 Bosch A M. Classical galactosaemia revisited.  J Inherit Metab Dis. 2006;  29 516-525
  • 10 Bruno C, van Diggelen O P, Cassandrini D et al. Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV).  Neurology. 2004;  63 1053-1058
  • 11 Burwinkel B, Rootwelt T, Kvittingen E A, Chakraborty P K, Kilimann M W. Severe phenotype of phosphorylase kinase-deficient liver glycogenosis with mutations in the PHKG2 gene.  Pediatr Res. 2003;  54 834-839
  • 12 Cohen J L, Vinik A, Faller J, Fox I H. Hyperuricemia in glycogen storage disease type I. Contributions by hypoglycemia and hyperglucagonemia to increased urate production.  J Clin Invest. 1985;  75 251-257
  • 13 Cox T M. Aldolase B and fructose intolerance.  FASEB J. 1994;  8 62-71
  • 14 Cox T M. The genetic consequences of our sweet tooth.  Nat Rev Genet. 2002;  6 481-487
  • 15 Demo E, Frush D, Gottfried M, Koepke J et al . Glycogen storage disease type III-hepatocellular carcinoma a long-term complication?.  J Hepatol. 2007;  46 492-498
  • 16 DiMauro S, Hartwig G B, Hays A et al. Debrancher deficiency: neuromuscular disorder in 5 adults.  Ann Neurol. 1979;  5 422-436
  • 17 Egger N G, Lee C, Anderson K E. Disorders of hem biosynthesis.. In: Inborn Metabolic Diseases. 4rd ed.. Heidelberg: Springer; 2006: 451-464
  • 18 Fernandes J. The effect of disaccharides on the hyperlactacidaemia of glucose-6-phosphatase-deficient children.  Acta Paediatr Scand. 1974;  63 695-698
  • 19 Franco L M, Krishnamurthy V, Bali D et al. Hepatocellular carcinoma in glycogen storage disease type Ia: a case series.  J Inherit Metab Dis. 2005;  28 153-162
  • 20 Geberhiwot T, Alger S, McKiernan  P et al. Serum lipid and lipoprotein profile of patients with glycogen storage disease types I, III and IX.  J Inherit Metab Dis. 2007;  30 406
  • 21 Greene H L, Swift L L, Knapp H R. Hyperlipidemia and fatty acid composition in patients treated for type IA glycogen storage disease.  J Pediatr. 1991;  119 398-403
  • 22 Häussinger D. Düsseldorfer Kompendium. Düsseldorf University Press; 2009
  • 23 Hift R J, Meissner P N. An analysis of 112 acute porphyric attacks in Cape Town, South Africa: Evidence that acute intermittent porphyria and variegate porphyria differ in susceptibility and severity.  Medicine. 2005;  84 48-60
  • 24 Jaeken J, Pirard M, Adamowicz M, Pronicka E, van Schaftingen E. Inhibition of phosphomannose isomerase by fructose 1-phosphate: an explanation for defective N-glycosylation in hereditary fructose intolerance.  Pediatr Res. 1996;  40 764-766
  • 25 Kemmer C, Riedel H, Köstler E, Pätzold K. Paracrystalline needle-shaped cytoplasmic liver cell inclusions in chronic hepatic porphyria – light and electron microscopic examination of liver biopsy specimens.  Zentralbl Allg Pathol. 1983;  127 253-264
  • 26 Kiechl S, Kohlendorfer U, Thaler C et al. Different clinical aspects of debrancher deficiency myopathy.  J Neurol Neurosurg Psychiatry. 1999;  67 364-368
  • 27 Kishnani P S, Chuang T P, Bali D et al. Chromosomal and genetic alterations in human hepatocellular adenomas associated with type Ia glycogen storage disease.  Hum Mol Genet. 2009;  18 4781-4790
  • 28 Kim S Y, Jun H S, Mead P A, Mansfield B C, Chou J Y. Neutrophil stress and apoptosis underlie myeloid dysfunction in glycogen storage disease type Ib.  Blood. 2008;  111 5704-5711
  • 29 Kao K J, Coleman R A, Pizzo S V. The bleeding diathesis in human glycogen storage disease type I: in vitro identification of a naturally occurring inhibitor of ristocetin-induced platelet aggregation.  Thromb Res. 1980;  18 683-692
  • 30 Köstler E, Wollina U. Therapy of porphyria cutanea tarda.  Expert Opin Pharmacother. 2005;  6 377-383
  • 31 Lindberg R L, Martini R, Baumgartner M et al. Motor neuropathy in porphobilinogen deaminase-deficient mice imitates the peripheral neuropathy of human acute porphyria.  J Clin Invest. 1999;  103 1127-1134
  • 32 Linet M S, Gridley G, Nyrén O et al. Primary liver cancer, other malignancies, and mortality risks following porphyria: a cohort study in Denmark and Sweden.  Am J Epidemiol. 1999;  149 1010-1015
  • 33 Lindhout M, Rubio-Gozalbo M E, Bakker J A et al. Direct non-radioactive assay of galactose-1-phosphate: uridyltransferase activity using high performance liquid chromatography.  Clin Chim Acta. 2010;  411 980-983
  • 34 Lossos A, Meiner Z, Barash V et al. Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the Tyr329Ser mutation in the glycogen-branching enzyme gene.  Ann Neurol. 1998;  44 867-72
  • 35 Mairovitz V, Labrune P, Fernandez H et al. Contraception and pregnancy in women affected by glycogen storage diseases.  Eur J Pediatr. 2002;  161 (Suppl 1) 97-101
  • 36 Matern D, Starzl T E, Arnaout W et al. Liver transplantation for glycogen storage disease types I, III, and IV.  Eur J Pediatr. 1999;  158 (Suppl 2) 43-48
  • 37 Mühlhausen C, Schneppenheim R, Budde U et al. Decreased plasma concentration of von Willebrand factor antigen (VWF:Ag) in patients with glycogen storage disease type Ia.  J Inherit Metab Dis. 2005;  28 945-950
  • 38 Müller-Wiefel D E, Steinmann B, Holm-Hadulla M et al . Infusion-associated kidney and liver failure in undiagnosed hereditary fructose intolerance.  Dtsch Med Wschr. 1983;  108 985-989
  • 39 Ockner R K, Kaikaus R M, Bass N M. Fatty-acid metabolism and the pathogenesis of hepatocellular carcinoma: review and hypothesis.  Hepatology. 1993;  18 669-676
  • 40 Panis B, Forget P P, van Kroonenburgh M J. et al . Bone metabolism in galactosemia.  Bone. 2004;  35 982-987
  • 41 Pischik E, Kauppinen R. Neurological manifestations of acute intermittent porphyria.  Cell Mol Biol. 2009;  55 72-83
  • 42 Santer R, Steinmann B, Schaub J. Fanconi-Bickel syndrome – a congenital defect of facilitative glucose transport.  Curr Mol Med. 2002;  2 213-27
  • 43 Santer R, Rischewski J, von Weihe M et al . The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe.  Hum Mutat. 2005;  25 594
  • 44 Sassa S. Modern diagnosis and management of the porphyrias.  Br J Haematol. 2006;  135 281-292
  • 45 Smit G PA, Rake J P, Akman H O, DiMauro S. Glycogen storage diseases and related disorders.. In: Inborn Metabolic Diseases. 4rd ed.. Heidelberg: Springer; 2006: 101-119
  • 46 Steinmann B, Santer R, van den Berghe G. Disorders of fructose metabolism.. In: Inborn Metabolic Diseases. 4rd ed.. Heidelberg: Springer; 2006: 135-142
  • 47 Stölzel U, Köstler E, Koszka C et al. Low prevalence of hepatitis C virus infection in porphyria cutanea tarda in Germany.  Hepatology. 1995;  21 1500-1503
  • 48 Talente G M, Coleman R A, Alter C. et al . Glycogen storage disease in adults.  Ann Intern Med. 1994;  120 218-226
  • 49 Van den Berghe G. Metabolic effects of fructose in the liver.  Curr Top Cell Regul. 1978;  13 97-135
  • 50 Waggoner D D, Buist N R, Donnell G N. Long-term prognosis in galactosaemia: results of a survey of 350 cases.  J Inherit Metab Dis. 1990;  13 802-818
  • 51 Weinstein D A, Correia C E, Saunders A C, Wolfsdorf J I. Hepatic glycogen synthase deficiency: an infrequently recognized cause of ketotic hypoglycemia.  Mol Genet Metab. 2006;  87 284-288
  • 52 Wiesmann U N, Rosé-Beutler B, Schlüchter R. Leguminosae in the diet: the raffinose-stachyose question.  Eur J Pediatr. 1995;  154 (Suppl 2) 93-96
  • 53 Wolfsdorf J I, Weinstein D A. Glycogen storage diseases.  Rev Endocr Metab Disord. 2003;  4 95-102
  • 54 Yiu W H, Mead P A, Jun H S, Mansfield B C, Chou J Y. Oxidative stress mediates nephropathy in type Ia glycogen storage disease.  Lab Invest. 2010;  90 620-629

Prof. Dr. Dieter Häussinger

Klinik für Gastroenterologie, Hepatologie und Infektiologie
Heinrich-Heine-Universität Düsseldorf

Moorenstraße 5

40225 Düsseldorf

Phone: 0211/8116330

Fax: 0211/8118752

Email: haeussin@uni-duesseldorf.de