A metabolic disorder similar to Zellweger syndrome with hepatic acatalasia and absence of peroxisomes, altered content and redox state of cytochromes, and infantile cirrhosis with hemosiderosis

European Journal of Pediatrics

Volumn 124, Issue 4, 1977, Pages 261-275

  Versmold, H T ^a   Bremer, H J ^b   Herzog, V ^c   Siegel, G ^d   Bassewitz, D B v ^e   Irle, U ^f   Voss, H v ^b   Lombeck, Ingrid ^b   Brauser, B ^c  

^a LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^b UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

^c UNIVERSITY OF MUNICH   (Germany)

^d FREIE UNIVERSITÄT BERLIN   (Germany)

^e UNIVERSITY OF MÜNSTER   (Germany)

^f Prof Hess Children's Hospital   (Germany)

Author keywords

Acatalasia; Cerebro hepato renal syndrome; Cirrhosis; Cytochrome abnormalities; Hemochromatosis; Mitochondria; Oxidative phosphorylation; Peroxisomes

Indexed keywords

CATALASE; CYTOCHROME;

ENZYME DEFICIENCY; HEMOSIDEROSIS; LIVER CIRRHOSIS; OXIDATIVE PHOSPHORYLATION; PEROXISOME; ZELLWEGER SYNDROME;

CATALASE; CYTOCHROMES; DIAGNOSIS, DIFFERENTIAL; ENDOPLASMIC RETICULUM; HEMOSIDEROSIS; HUMANS; INFANT; LIVER; LIVER CIRRHOSIS; MALE; METABOLISM, INBORN ERRORS; MICROBODIES; MICROSCOPY, ELECTRON; MITOCHONDRIA, LIVER; MUSCLE SPASTICITY; SYNDROME;

EID: 0017596187     PISSN: 03406997     EISSN: 14321076     Source Type: Journal    
DOI: 10.1007/BF00441934     Document Type: Article

References (50)

1. Deficiency of catalase and cytochrome b: A genetic defect of oxygen metabolism?
2. Peroxisomal and mitochondrial defects in the cerebro-hepato-renal syndrome
3. A familial syndrome of multiple congenital defects
4. A syndrome of multiple developmental defects including polycystic kidneys and intrahepatic biliary dysgenesis in two siblings
5. Cerebro-hepato-renal syndrome
6. The Zellweger syndrome (cerebro-hepato-renal syndrome)
7. Congenital and familial iron overload
8. Cerebro-hepato-renal syndrome of Zellweger
9. Studies of malformation syndromes of man. XIB: the cerebro-hepato-renal syndrome of Zellweger: comparative pathology
10. Evaluation of deferoxamine in iron overload
11. Ionic composition and ionic exchange in vascular smooth muscle
12. Intracellular distribution of enzymes. V. Further studies on the distribution of cytochrome c in rat liver homogenates
13. Ein Gerät zur höchstempfindlichen Differentialspektrophotometrie mit dem Rapidspektroskop
14. Control of mitochondrial activity by metabolites in the hemoglobin free perfused liver
15. Der Kurzzeit-Spektralanalysator. Ein schnell arbeitendes Spektralphotometer zur laufenden Messung von Absorptions-bzw
16. Titration of cytochrome c oxidase with NADH and phenazine methosulphate
17. The quantitative estimation of cytochrome b in submitochondrial particles from beef heart
18. Spectrum of horse-heart cytochrome c
19. The carbon monoxide-binding pigment of liver microsomes. I. Evidence for its hemoprotein nature
20. The carbon monoxide-binding pigment of liver microsomes. II. Solubilization, purification, and properties
21. Diphosphofructose-Aldolase, Phosphoglyceraldehyd-Dehydrogenase, Milchsäure-Dehydrogenase, Glycerophosphat-Dehydrogenase und Pyruvat-Kinase aus Kaninchnmuskulatur in einem Arbeitsgang
22. Heme occupancy of catalase in hemoglobin-free perfused rat liver catalase
23. Preparation of nonfrozen sections for electron microscope cytochemistry
24. Studies on microperoxisomes. III. Observations on human and rat hepatocytes
25. An improved method for demonstration of the peroxidatic activity of beef liver catalase
26. The use of lead-citrate at high pH as an electron opaque stain in electron microscopy
27. Cerebro-hepato-renal syndrome of Zellweger: An inherited disorder of neuronal migration
28. Iron, copper and manganese in human organs at various ages
29. The copper and “inorganic” iron contents of human tissues
30. The iron, copper and manganese content of the human brain
31. Iron storage in the first five years of life
32. The copper and iron content of brain and liver in the normal and in hepato-lenticular degeneration
33. Nondroplet ultrastructural demonstration of cytochrome oxidase activity with a polymerizing osmiophilic reagent, diaminobenzidine (DAB)
34. Cytochrome P-450 and b5 in human liver microsomes
35. Determination of drug metabolizing enzymes in needle biopsies of human liver
36. Peroxidase actkvity in peroxisomes (microbodies) of acatalasemic mice
37. The endoplasmic reticulum in the Golgi zone and its relation to microbodies, Golgi apparatus and autophagic vacuoles in rat liver cells
38. Ultrastructure of human hepatocellular carcinoma and surrounding non-neoplastic liver
39. Formation of membrane-glycogen array in rat hepatoma cells
40. Hepatic cellular responses to liver cancer: Abnormalities in metabolism of mitochondria isolated from human liver involved with carcinoma
41. Clinical application of cytochrome a(+ a3) assay of mitochondria from liver specimens: An aid in determining metabolic tolerance of liver remnant for hepatic resection
42. The cellular mechanism of vitamin E action: Direct and indirect effect of α-tocopherol on mitochondrial respiration
43. The role of H2O2 generation in perfused rat liver and the reaction of catalase compound I and hydrogen donors
44. Biochemie des Peroxysoms in der Leberzelle
45. The mitochondrial generation of hydrogen peroxide
46. Mitochondrial H2O2 formation: Relationship with energy conservation
47. Effect of dietary selenium on erythrocyte and liver glutathione peroxidase in the rat
48. Excretionb of pipecolic acid by infants and by patients with hyperlysinemia