Literature DB >> 2581062

Identification of 3 alpha,7 alpha,12 alpha-trihydroxy-5 beta-cholestan-26-oic acid, an intermediate in cholic acid synthesis, in the plasma of patients with infantile Refsum's disease.

A Poulos, M J Whiting.   

Abstract

The plasma bile acid profiles of three children with the inherited metabolic disorder, infantile Refsum's disease, were found to contain 3 alpha,7 alpha,12 alpha-trihydroxy-5 beta-cholestan-26-oic acid. This intermediate in the synthesis of cholic acid was identified by combined gas-liquid chromatography-mass spectrometry and accounted for approximately 25% of the total bile acids which were present at elevated concentrations in plasma. Infantile Refsum's disease appears to share several biochemical features with the cerebro-hepato-renal syndrome (Zellweger's disease), including abnormal bile acid metabolism.

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Year:  1985        PMID： 2581062     DOI： 10.1007/bf01805476

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  13 in total

1.  Cerebro-hepato-renal (Zellweger) syndrome and neonatal adrenoleukodystrophy: similarities in phenotype and accumulation of very long chain fatty acids.

Authors:  F R Brown; A J McAdams; J W Cummins; R Konkol; I Singh; A B Moser; H W Moser
Journal:  Johns Hopkins Med J       Date:  1982-12

2.  The metabolism of 3alpha, 7alpha, 12alpha-trihydorxy-5beta-cholestan-26-oic acid in two siblings with cholestasis due to intrahepatic bile duct anomalies. An apparent inborn error of cholic acid synthesis.

Authors:  R F Hanson; J N Isenberg; G C Williams; D Hachey; P Szczepanik; P D Klein; H L Sharp
Journal:  J Clin Invest       Date:  1975-09       Impact factor: 14.808

3.  Formation of cholic acid from 3 alpha, 7 alpha, 12 alpha-trihydroxy-5 beta-cholestanoic acid by rat liver peroxisomes.

Authors:  F Kase; I Björkhem; J I Pedersen
Journal:  J Lipid Res       Date:  1983-12       Impact factor: 5.922

4.  Biochemical studies in the cerebro-hepato-renal syndrome of Zellweger: a disturbance in the metabolism of pipecolic acid.

Authors:  J M Trijbels; L A Monnens; J A Bakkeren; A H Van Raay-Selten; J M Corstiaensen
Journal:  J Inherit Metab Dis       Date:  1980       Impact factor: 4.982

5.  Defects of bile acid synthesis in Zellweger's syndrome.

Authors:  R F Hanson; P Szczepanik-VanLeeuwen; G C Williams; G Grabowski; H L Sharp
Journal:  Science       Date:  1979-03-16       Impact factor: 47.728

6.  Disturbances in bile acid metabolism of infants with the Zellweger (cerebro-hepato-renal) syndrome.

Authors:  L Monnens; J Bakkeren; G Parmentier; G Janssen; U van Haelst; F Trijbels; H Eyssen
Journal:  Eur J Pediatr       Date:  1980       Impact factor: 3.183

7.  Liver in the cerebro-hepato-renal syndrome: defective bile acid synthesis and abnormal mitochondria.

Authors:  R K Mathis; J B Watkins; P Szczepanik-Van Leeuwen; I T Lott
Journal:  Gastroenterology       Date:  1980-12       Impact factor: 22.682

8.  Infantile phytanic acid storage disease, a possible variant of Refsum's disease: three cases, including ultrastructural studies of the liver.

Authors:  J M Scotto; M Hadchouel; M Odievre; M H Laudat; J M Saudubray; O Dulac; I Beucler; P Beaune
Journal:  J Inherit Metab Dis       Date:  1982       Impact factor: 4.982

9.  Cerebrotendinous xanthomatosis: a defect in mitochondrial 26-hydroxylation required for normal biosynthesis of cholic acid.

Authors:  H Oftebro; I Björkhem; S Skrede; A Schreiner; J I Pederson
Journal:  J Clin Invest       Date:  1980-06       Impact factor: 14.808

10.  Patterns of Refsum's disease. Phytanic acid oxidase deficiency.

Authors:  A Poulos; A C Pollard; J D Mitchell; G Wise; G Mortimer
Journal:  Arch Dis Child       Date:  1984-03       Impact factor: 3.791
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  9 in total

1.  Biosynthesis and maturation of peroxisomal beta-oxidation enzymes in fibroblasts in relation to the Zellweger syndrome and infantile Refsum disease.

Authors:  A W Schram; A Strijland; T Hashimoto; R J Wanders; R B Schutgens; H van den Bosch; J M Tager
Journal:  Proc Natl Acad Sci U S A       Date:  1986-08       Impact factor: 11.205

2.  Infantile Refsum disease: deficiency of catalase-containing particles (peroxisomes), alkyldihydroxyacetone phosphate synthase and peroxisomal beta-oxidation enzyme proteins.

Authors:  R J Wanders; R B Schutgens; G Schrakamp; H van den Bosch; J M Tager; A W Schram; T Hashimoto; B T Poll-Thé; J M Saudubrau
Journal:  Eur J Pediatr       Date:  1986-08       Impact factor: 3.183

3.  Infantile Refsum's disease: biochemical findings suggesting multiple peroxisomal dysfunction.

Authors:  B T Poll-The; J M Saudubray; H Ogier; R B Schutgens; R J Wanders; G Schrakamp; H van den Bosch; J M Trijbels; A Poulos; H W Moser
Journal:  J Inherit Metab Dis       Date:  1986       Impact factor: 4.982

4.  Infantile Refsum disease: an inherited peroxisomal disorder. Comparison with Zellweger syndrome and neonatal adrenoleukodystrophy.

Authors:  B T Poll-The; J M Saudubray; H A Ogier; M Odièvre; J M Scotto; L Monnens; L C Govaerts; F Roels; A Cornelis; R B Schutgens
Journal:  Eur J Pediatr       Date:  1987-09       Impact factor: 3.183

5.  Peroxisomal integral membrane proteins in livers of patients with Zellweger syndrome, infantile Refsum's disease and X-linked adrenoleukodystrophy.

Authors:  G M Small; M J Santos; T Imanaka; A Poulos; D M Danks; H W Moser; P B Lazarow
Journal:  J Inherit Metab Dis       Date:  1988       Impact factor: 4.982

Review 6.  Peroxisomal disorders: a newly recognised group of genetic diseases.

Authors:  R B Schutgens; H S Heymans; R J Wanders; H van den Bosch; J M Tager
Journal:  Eur J Pediatr       Date:  1986-02       Impact factor: 3.183

7.  Cerebro-hepato-renal (Zellweger) syndrome, adrenoleukodystrophy, and Refsum's disease: plasma changes and skin fibroblast phytanic acid oxidase.

Authors:  A Poulos; P Sharp; A J Fellenberg; D M Danks
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

8.  Treatment of infantile phytanic acid storage disease: clinical, biochemical and ultrastructural findings in two children treated for 2 years.

Authors:  E F Robertson; A Poulos; P Sharp; J Manson; G Wise; A Jaunzems; R Carter
Journal:  Eur J Pediatr       Date:  1988-02       Impact factor: 3.183

9.  Plasma bile acids in patients with peroxisomal dysfunction syndromes: analysis by capillary gas chromatography-mass spectrometry.

Authors:  P T Clayton; B D Lake; N A Hall; D B Shortland; R A Carruthers; A M Lawson
Journal:  Eur J Pediatr       Date:  1987-03       Impact factor: 3.183
  9 in total

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