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- Title
Bile Acid Profiles in a Peroxisomal D-3-Hydroxyacyl-CoA Dehydratase/D-3-Hydroxyacyl-CoA Dehydrogenase Bifunctional Protein Deficiency.
- Authors
Une, Mizuho; Konishi, Masaki; Suzuki, Yasuyuki; Akaboshi, Shinjiro; Yoshii, Michiko; Kuramoto, Taiju; Fujimura, Kingo
- Abstract
Bile acid profiles in serum, urine and bile from an infant with a peroxisomal D-3-hydroxy-acyl-CoA dehydratase/D-3-hydroxyacyl-CoA dehydrogenase bifunctional protein (D-bi-functional protein) deficiency were analyzed by means of gas-liquid chromatography, gas-liquid chromatography-mass spectrometry, and high-performance liquid chromatography. As in such several peroxisomal disorders as Zellweger syndrome, neonatal adrenol-eukodystrophy, and infantile Refsum disease, the accumulation of C27-bile acid intermediates was also demonstrated in the infant with D-bifunctional protein deficiency, accounting for 74% of the total bile acids in serum, 59% in urine, and 35% in bile. In addition, the major constituents of the C27-bile acids were (24R,25R)- and (24R,25S)-3α,7α,12α,24-tetrahydroxy-5β-cholestanoic acids along with small amounts of their 24S counterparts. Since immunoreactive acyl-CoA oxidase, L-bifunctional protein, and thiolase were all present in the liver, the impairment of the oxidative side-chain cleavage in bile acid biosynthesis is considered to be due to the defect of D-bifunctional protein.
- Subjects
BILE acids; PEROXISOMAL disorders; SERUM; BIOSYNTHESIS; PROTEINS
- Publication
Journal of Biochemistry, 1997, Vol 122, Issue 3, p655
- ISSN
0021-924X
- Publication type
Article
- DOI
10.1093/oxfordjournals.jbchem.a021803