Literature DB >> 3816854

Prenatal diagnosis of Zellweger syndrome and related disorders: impaired degradation of phytanic acid.

A Poulos, C van Crugten, P Sharp, W F Carey, E Robertson, D M Becroft, J M Saudubray, B T Poll-The, E Christensen, N Brandt.   

Abstract

Normal amniocytes and chorionic villous cells in culture are able to produce 14CO2 from exogenous [1-14C] phytanic acid. In contrast, cells from four fetuses at risk for the cerebro-hepato-renal (Zellweger) syndrome and related disorders showed a greatly reduced activity, indicating a block in oxidation of the fatty acid. Our data confirm that phytanic acid oxidase activity measurement can be used for the prenatal assessment of this group of disorders.

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Year:  1986        PMID： 3816854     DOI： 10.1007/bf02429053

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  20 in total

1.  Cerebro-hepato-renal syndrome of Zellweger. A report of eight cases with comments upon the incidence, the liver lesion, and a fault in pipecolic acid metabolism.

Authors:  D M Danks; P Tippett; C Adams; P Campbell
Journal:  J Pediatr       Date:  1975-03       Impact factor: 4.406

2.  Accumulation and defective beta-oxidation of very long chain fatty acids in Zellweger's syndrome, adrenoleukodystrophy and Refsum's disease variants.

Authors:  A Poulos; H Singh; B Paton; P Sharp; N Derwas
Journal:  Clin Genet       Date:  1986-05       Impact factor: 4.438

3.  Prenatal detection of Zellweger syndrome.

Authors:  R B Schutgens; H S Heymans; R J Wanders; H vd Bosch; G Schrakamp
Journal:  Lancet       Date:  1984-12-08       Impact factor: 79.321

4.  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

5.  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

6.  Deficiency of acyl-CoA: dihydroxyacetone phosphate acyltransferase in patients with Zellweger (cerebro-hepato-renal) syndrome.

Authors:  R B Schutgens; G J Romeyn; R J Wanders; H van den Bosch; G Schrakamp; H S Heymans
Journal:  Biochem Biophys Res Commun       Date:  1984-04-16       Impact factor: 3.575

7.  Deficiency of enzymes catalyzing the biosynthesis of glycerol-ether lipids in Zellweger syndrome. A new category of metabolic disease involving the absence of peroxisomes.

Authors:  N S Datta; G N Wilson; A K Hajra
Journal:  N Engl J Med       Date:  1984-10-25       Impact factor: 91.245

8.  Diagnosis of Refsum's disease using [1-14C]phytanic acid as substrate.

Authors:  A Poulos
Journal:  Clin Genet       Date:  1981-10       Impact factor: 4.438

9.  Prenatal diagnosis of lysosomal storage diseases. Review of experience in 145 patient referrals over a period of eight years.

Authors:  W F Carey; J J Hopwood; A Poulos; D Petersons; P V Nelson; V Muller; R Harrison; A C Pollard
Journal:  Med J Aust       Date:  1984-02-18       Impact factor: 7.738

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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  7 in total

1.  Metabolism of branched chain fatty acids in peroxisomal disorders.

Authors:  H Singh; S Usher; D Johnson; A Poulos
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

Review 2.  Prenatal and perinatal diagnosis of peroxisomal disorders.

Authors:  R B Schutgens; G Schrakamp; R J Wanders; H S Heymans; J M Tager; H van den Bosch
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

Review 3.  Peroxisomes: a nexus for lipid metabolism and cellular signaling.

Authors:  Irfan J Lodhi; Clay F Semenkovich
Journal:  Cell Metab       Date:  2014-02-06       Impact factor: 27.287

4.  Biosynthesis of peroxisomal membrane polypeptides in infants with Zellweger syndrome.

Authors:  Y Suzuki; N Shimozawa; T Orii; J Aikawa; K Tada; T Kuwabara; T Hashimoto
Journal:  J Inherit Metab Dis       Date:  1987       Impact factor: 4.982

5.  Autopsy findings in two siblings with infantile Refsum disease.

Authors:  C W Chow; A Poulos; A J Fellenberg; J Christodoulou; D M Danks
Journal:  Acta Neuropathol       Date:  1992       Impact factor: 17.088

6.  A new peroxisomal disorder with enlarged peroxisomes and a specific deficiency of acyl-CoA oxidase (pseudo-neonatal adrenoleukodystrophy).

Authors:  B T Poll-The; F Roels; H Ogier; J Scotto; J Vamecq; R B Schutgens; R J Wanders; C W van Roermund; M J van Wijland; A W Schram
Journal:  Am J Hum Genet       Date:  1988-03       Impact factor: 11.025

7.  Formic acid is a product of the alpha-oxidation of fatty acids by human skin fibroblasts: deficiency of formic acid production in peroxisome-deficient fibroblasts.

Authors:  A Poulos; P Sharp; H Singh; D W Johnson; W F Carey; C Easton
Journal:  Biochem J       Date:  1993-06-01       Impact factor: 3.857
  7 in total

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