Studies on the degradation of [U-3H]-phytanic acid and [U-3H]-pristanic acid in cultured fibroblasts from children with peroxisomal disorders

1996 ◽  
Vol 56 (3) ◽  
pp. 211-217 ◽  
Author(s):  
B. F. Kase ◽  
I. Björkhem
Keyword(s):  
Phytanic Acid ◽  
Pristanic Acid ◽  
Peroxisomal Disorders ◽  
Cultured Fibroblasts

Diagnosis of peroxisomal disorders by analysis of phytanic and pristanic acids in stored blood spots collected at neonatal screening

1993 ◽  
Vol 39 (9) ◽  
pp. 1904-1906 ◽  
Author(s):  
H J ten Brink ◽  
C M van den Heuvel ◽  
E Christensen ◽  
C Largillière ◽  
C Jakobs
Keyword(s):  
Neonatal Screening ◽  
Phytanic Acid ◽  
Zellweger Syndrome ◽  
Dried Blood Spots ◽  
Chondrodysplasia Punctata ◽  
Pristanic Acid ◽  
Rhizomelic Chondrodysplasia Punctata ◽  
Peroxisomal Disorders ◽  
Blood Spots ◽  
Blood Spot

Abstract Concentrations of phytanic acid and pristanic acid were measured in stored dried blood spots collected at neonatal screening from patients with peroxisomal disorders, and compared with concentrations in control blood spots. In blood spots from two patients with Zellweger syndrome both phytanic acid and pristanic acid concentrations were increased but their concentration ratio was normal. In the blood spot from a patient with rhizomelic chondrodysplasia punctata, the concentration of phytanic acid was increased, whereas pristanic acid was within the control range, resulting in a low pristanic acid/phytanic acid ratio. In the blood spot from a patient with X-linked adrenoleukodystrophy, the concentrations of the acids and their ratio were normal. These findings are consistent with results for these acids in plasma from such patients. Measurement of phytanic acid and pristanic acid and their ratios in stored dried blood collected at neonatal screening can therefore be used in the diagnosis of peroxisomal disorders, especially for those cases in which, owing to early death of the patient, no other material is available for biochemical investigations.

scholarly journals Phytanic acid and pristanic acid are oxidized by sequential peroxisomal and mitochondrial reactions in cultured fibroblasts

1998 ◽  
Vol 39 (1) ◽  
pp. 66-74 ◽  
Author(s):  
Nanda M. Verhoeven ◽  
Diane S. Roe ◽  
Robert M. Kok ◽  
Ronald J.A. Wanders ◽  
Cornelis Jakobs ◽  
...  
Keyword(s):  
Phytanic Acid ◽  
Pristanic Acid ◽  
Cultured Fibroblasts

scholarly journals Phytanic acid α-oxidation in peroxisomal disorders: Studies in cultured human fibroblasts

1997 ◽  
Vol 1361 (3) ◽  
pp. 281-286 ◽  
Author(s):  
Nanda M Verhoeven ◽  
Danielle S.M. Schor ◽  
Charles R Roe ◽  
Ronald J.A Wanders ◽  
Cornelis Jakobs
Keyword(s):  
Phytanic Acid ◽  
Human Fibroblasts ◽  
Peroxisomal Disorders ◽  
Cultured Human Fibroblasts

Studies on the oxidation of phytanic acid and pristanic acid in human fibroblasts by acylcarnitine analysis

1998 ◽  
Vol 21 (7) ◽  
pp. 753-760 ◽  
Author(s):  
N. M. Verhoeven ◽  
C. Jakobs ◽  
H. J. Ten Brink ◽  
R. J. A. Wanders ◽  
C. R. Roe
Keyword(s):  
Phytanic Acid ◽  
Human Fibroblasts ◽  
Pristanic Acid ◽  
Acylcarnitine Analysis
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