Urinary bile acids and peroxisomal bifunctional enzyme deficiency

Natowicz, Marvin R.; Evans, James E.; Kelley, Richard I.; Moser, Ann B.; Watkins, Paul A.; Moser, Hugo W.

doi:10.1002/(sici)1096-8628(19960517)63:2<356::aid-ajmg6>3.0.co;2-r

Cited by 7 publications

(4 citation statements)

References 36 publications

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“…closely resembled those in X-ALD. The bile-acid intermediates DHCA and THCA, which are increased in BD (Natowicz et al 1996), were not detected in the urine of Pt2 and Pt3. The epoxydicarboxylic acids frequently observed in PBD and SED urine (Yamaguchi et al 2001) were absent in Pt3.…”

Section: Discussionmentioning

confidence: 84%

Contiguous Deletion of the X-Linked Adrenoleukodystrophy Gene (ABCD1) and DXS1357E: A Novel Neonatal Phenotype Similar to Peroxisomal Biogenesis Disorders

Corzo

Gibson

Johnson

et al. 2002

The American Journal of Human Genetics

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X-linked adrenoleukodystrophy (X-ALD) results from mutations in ABCD1. ABCD1 resides on Xq28 and encodes an integral peroxisomal membrane protein (ALD protein [ALDP]) that is of unknown function and that belongs to the ATP-binding cassette-transporter superfamily. Individuals with ABCD1 mutations accumulate very-long-chain fatty acids (VLCFA) (carbon length >22). Childhood cerebral X-ALD is the most devastating form of the disease. These children have the earliest onset (age 7.2 +/- 1.7 years) among the clinical phenotypes for ABCD1 mutations, but onset does not occur at <3 years of age. Individuals with either peroxisomal biogenesis disorders (PBD) or single-enzyme deficiencies (SED) in the peroxisomal beta-oxidation pathway--disorders such as acyl CoA oxidase deficiency and bifunctional protein deficiency--also accumulate VLCFA, but they present during the neonatal period. Until now, it has been possible to distinguish unequivocally between individuals with these autosomal recessively inherited syndromes and individuals with ABCD1 mutations, on the basis of the clinical presentation and measurement of other biochemical markers. We have identified three newborn boys who had clinical symptoms and initial biochemical results consistent with PBD or SED. In further study, however, we showed that they lacked ALDP, and we identified deletions that extended into the promoter region of ABCD1 and the neighboring gene, DXS1357E. Mutations in DXS1357E and the ABCD1 promoter region have not been described previously. We propose that the term "contiguous ABCD1 DXS1357E deletion syndrome" (CADDS) be used to identify this new contiguous-gene syndrome. The three patients with CADDS who are described here have important implications for genetic counseling, because individuals with CADDS may previously have been misdiagnosed as having an autosomal recessive PBD or SED

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Section: Discussionmentioning

confidence: 84%

Contiguous Deletion of the X-Linked Adrenoleukodystrophy Gene (ABCD1) and DXS1357E: A Novel Neonatal Phenotype Similar to Peroxisomal Biogenesis Disorders

Corzo

Gibson

Johnson

et al. 2002

The American Journal of Human Genetics

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“…Another characteristic feature of peroxisomal ,3-oxidation is the bileacid formation from di-and trihydroxy-5f3-cholestanic acid to chenodeoxycholic acid and cholic acid, respectively. Accumulation of bile-acid intermediates with an uncleaved side chain, such as 3ci,7a,12a-trihydroxy-5flcholestanic acid, occurs in peroxisome-biogenesis disorders and in cases of L-bifunctional protein deficiency (Watkins et al 1989;Pedersen 1993;Natowicz et al 1996).…”

Section: Discussionmentioning

confidence: 99%

d-3-Hydroxyacyl-CoA Dehydratase/d-3-Hydroxyacyl-CoA Dehydrogenase Bifunctional Protein Deficiency: A Newly Identified Peroxisomal Disorder

Suzuki

Jiang

Souri

et al. 1997

The American Journal of Human Genetics

104

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Peroxisomal beta-oxidation proceeds from enoyl-CoA through D-3-hydroxyacyl-CoA to 3-ketoacyl-CoA by the D-3-hydroxyacyl-CoA dehydratase/D-3-hydroxy-acyl-CoA dehydrogenase bifunctional protein (d-bifunctional protein), and the oxidation of bile-acid precursors also has been suggested as being catalyzed by the d-bifunctional protein. Because of the important roles of this protein, we reinvestigated two Japanese patients previously diagnosed as having enoyl-CoA hydratase/L-3-hydroxyacyl-CoA dehydrogenase bifunctional protein (L-bifunctional protein) deficiency, in complementation studies. We found that both the protein and the enzyme activity of the d-bifunctional protein were hardly detectable in these patients but that the active L-bifunctional protein was present. The mRNA level in patient 1 was very low, and, for patient 2, mRNA was of a smaller size. Sequencing analysis of the cDNA revealed a 52-bp deletion in patient 1 and a 237-bp deletion in patient 2. This seems to be the first report of D-bifunctional protein deficiency. Patients previously diagnosed as cases of L-bifunctional protein deficiency probably should be reexamined for a possible d-bifunctional protein deficiency.

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“…The techniques demonstrate increased sensitivity as compared with other conventional methods. Several papers demonstrate the applicability of clinical bile acid analysis and disease detection with GC/MS. − …”

Section: Gc/msmentioning

confidence: 99%

“…Several papers demonstrate the applicability of clinical bile acid analysis and disease detection with GC/MS. [208][209][210][211][212][213][214][215][216][217][218][219][220]…”

Section: Gc/msmentioning

confidence: 99%