Bile acid abnormalities in peroxisomal disorders
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1 Bile acid abnormalities in peroxisomal disorders Sacha Ferdinandusse Lab. Genetic Metabolic Diseases Academic Medical Center Amsterdam
2 Peroxisomes play an important role in bile acid biosynthesis Bile acid biosynthesis involves: Modification of the ring structure of cholesterol Oxidation of the side chain Shortening of the side chain------peroxisome Conjugation------Peroxisome
3 Peroxisomal C27-bile acid intermediates Cholesterol Ring modifications Side chain oxidation 3α,7α-dihydroxycholestanoic acid (DHCA) 3α,7α,12α-trihydroxycholestanoic acid (THCA) Side chain shortening via peroxisomal β-oxidation Chenodeoxycholic acid (CDCA) Cholic acid (CA)
4 Peroxisomal functions Bile acid biosynthesis Fatty acid α- and β-oxidation Plasmalogen biosynthesis Glyoxylate metabolism L-pipecolic acid oxidation
5 Fatty acid oxidation in peroxisomes Very long-chain fatty acids ( C24:0) OH O Branched-chain fatty acids (phytanic acid, pristanic acid) OH Bile acid intermediates (DHCA, THCA); Biosynthesis bile acids HO OH OH O Long-chain dicarboxylic acids Polyunsaturated fatty acids; Biosynthesis C22:6ω3 and C22:5ω6
6 Fatty acid oxidation in peroxisomes β-oxidation
7 Peroxisomal disorders associated with bile acid abnormalities
8 Peroxisomal disorders associated with bile acid abnormalities Peroxisome deficiency disorders (Zellweger spectrum) α-methylacyl-coa racemase deficiency (AMACR) D-bifunctional protein deficiency (DBP) Sterol carrier protein X (SCPx)
9 Peroxisome deficiency disorders Zellweger syndrome spectrum: Zellweger syndrome Neonatal adrenoleukodystrophy Infantile Refsum disease Characterized by the absence of functional peroxisomes. Deficiency of multiple peroxisomal metabolic pathways. Caused by mutations in one of the 12 human PEX genes involved in peroxisome assembly.
10 Peroxisome deficiency disorders Clinical presentation: Neonatal hypotonia Seizures Impaired vision, impaired hearing Psycho-motor retardation Dysmorphic features Steatorrhea, fat-soluble vitamin deficiency Liver disease
11 Peroxisome deficiency disorders Clinical presentation: Liver disease Hepatomegaly Increased serum liver enzymes Cholestasis Proliferation of bile ducts Fibrosis (eventually cirrhosis) Steatosis Hemosiderosis Inflammation Lesions of cholangioles
12 Peroxisome deficiency disorders Plasmalogens VLCFAs Pristanic acid and phytanic acid (diet and age dependent) DHCA, THCA, C29-dicarboxylic acid - Sum of DHCA, THCA, C29-dicarboxylic acid as a % of total bile acids ranges from 5-90%. - Pool size CDCA and CA is markedly reduced. - C27-bile acid intermediates only partly conjugated, whereas C24-bile acids normally conjugated. - C29-dicarboxylic acid poorly excreted in urine and bile.
13 Urine Peroxisome deficiency disorders Taurine conjugate of OH-THCA and di-oh-thca (m/z 572 and 588) 5β-cholestanepentol and 27-nor- 5β-cholestanepentol glucuronide (m/z 627 and 613)
14 α-methylacyl-coa racemase (AMACR) deficiency
15 α-methylacyl-coa racemase (AMACR) deficiency Two clinical presentations: The bile acid biosynthesis defect causes symptoms in childhood. The accumulation of branched-chain fatty acids caused symptoms in adulthood.
16 α-methylacyl-coa racemase (AMACR) deficiency Clinical presentation in children: Fat-soluble vitamin deficiency (K, E, D) Cholestatic liver disease
17 α-methylacyl-coa racemase (AMACR) deficiency Clinical presentation in adult patients: Adult-onset sensory motor neuropathy Encephalopathy Seizures Postural and intention tremor Retinitis pigmentosa, Cataracts
18 α-methylacyl-coa racemase (AMACR) deficiency Plasma Pristanic acid and phytanic acid (diet and age dependent) (25R)-DHCA and (25R)-THCA PBD S R S R AMACR
19 D-bifunctional protein (DBP) deficiency
20 D-bifunctional protein (DBP) deficiency Clinical presentation: Neonatal hypotonia Seizures Impaired vision, impaired hearing Psycho-motor retardation Liver disease Hepatomegaly Cholestasis Proliferation of bile ducts Fibrosis Steatosis Hemosiderosis
21 D-bifunctional protein (DBP) deficiency Plasma VLCFAs Pristanic acid and phytanic acid (diet and age dependent) DHCA and THCA (in most but not all patients)
22 D-bifunctional protein (DBP) deficiency Three subgroups of DBP deficiency: Type I: Combined DBP hydratase+dehydrogenase deficiency Type II: Isolated DBP enoyl-coa hydratase deficiency Type III: Isolated DBP 3-hydroxyacyl-CoA dehydrogenase deficiency
23 Bile acid abnormalities and DBP deficiency Type I + II: DHCA, THCA, 24-ene-THCA, (24S,25S)-24-OH-THCA Type III: (24R,25R)-24-OH-THCA, (24R,25S)-24-OH-THCA, (24S,25S)-24-OH-THCA, DHCA, THCA, 24-ene-THCA
24 D-bifunctional protein (DBP) deficiency Patients with a longer survival tend to accumulate less DHCA and THCA, suggesting that residual DBP activity contributes to the extent of bile acid abnormalities in patients.
25 D-bifunctional protein (DBP) deficiency Urine Taurine conjugate of OH-24-ene-THCA and di-oh-24-ene- THCA (m/z 570 and 586)
26 Sterol carrier protein X (SCPx) deficiency
27 Sterol carrier protein X (SCPx) deficiency Clinical presentation: Spasmodic torticollis with dystonic head tremor Hyposmia, hypoacusis, nystagmus No abnormalities upon ophthalmologic investigations Sensory motor neuropathy Slight cerebellar ataxia
28 Sterol carrier protein X (SCPx) deficiency Plasma Pristanic acid and phytanic acid DHCA and THCA Urine Excretion of abnormal bile alcohol glucuronides
29 Sterol carrier protein X (SCPx) deficiency Glucuronide conjugates: m/z 611 cholestanetetrol, of pentahydroxy-27nor-cholestan- 24one m/z nor-cholestanepentol m/z 627 cholestanepentol, of hexahydroxy-27nor-cholestan- 24one m/z nor-cholestanehexol
30 Conclusion Bile acid abnormalities in peroxisomal disorders: C24-bile acids are reduced reduced bile flow cholestasis Accumulation of C27-bile acid intermediates more hydrophobic, especially toxic, poorly conjugated, poorly excreted cholestasis + liver injury Bile acid therapy successful in relatively mild patients
31 Acknowledgments Thanks to many people at the laboratory Genetic Metabolic Diseases, AMC. Ronald J.A. Wanders Ries Duran Simone Denis Henk Overmars Albert Bootsma Henny Rusch Emma s Children Hospital, AMC Bwee-Tien Poll The Peter Barth
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