BILE-ACID PROFILES IN A PEROXISOMAL D-3-HYDROXYACYL-COA DEHYDRATASE D-3-HYDROXYACYL-COA DEHYDROGENASE BIFUNCTIONAL PROTEIN-DEFICIENCY

Bile acid profiles in serum, urine and bile from an infant with a pero xisomal D-3-hydroxy-acyl-CoA dehydratase/D-3-hydroxyacyl-CoA dehydroge nase bifunctional protein (D-bifunctional protein) deficieney were ana lyzed 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 adr enoleukodystrophy, and infantile Refsum disease, the accumulation of C -27-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 C,,-bile acids were (24R,25R)- and (24R,25S)-3 al pha, 7 alpha, 12 alpha, 24-tetrahydroxy-5 beta-cholestanoic acids alon g with small amounts of their 24S counterparts. Since immunoreactive a cyl-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-bifu nctional protein.