X-linked adrenoleukodystrophy is a frequent cause of idiopathic Addison's disease in young adult male patients

Journal of Clinical Endocrinology and Metabolism

Volumn 81, Issue 2, 1996, Pages 470-474

  Laureti, Stefano ^a   Casucci, Giovanni ^a   Santeusanio, Fausto ^a   Angeletti, Gabriella ^a   Aubourg, Patrick ^b   Brunetti, Paolo ^a  

^a UNIVERSITY OF PERUGIA   (Italy)

^b INSERM   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ADDISON DISEASE; ADOLESCENT; ADRENAL CORTEX INSUFFICIENCY; ADRENOLEUKODYSTROPHY; ADULT; ARTICLE; CHILD; CHROMOSOME XQ; CLINICAL ARTICLE; GENE LOCATION; GENETIC DISORDER; HUMAN; IDIOPATHIC DISEASE; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; X CHROMOSOME LINKAGE;

ADDISON DISEASE; ADOLESCENT; ADRENAL CORTEX; ADRENOLEUKODYSTROPHY; ADULT; AUTOANTIBODIES; CHILD; FATTY ACIDS; HUMANS; LINKAGE (GENETICS); MALE; X CHROMOSOME;

EID: 0030024842     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.81.2.470     Document Type: Article

References (30)

1. McKusic VA. 1990 Mendelian inheritance in man, catalog of autosomal recessive and X-linked phenotype. 9th ed. Baltimore: Johns Hopkins University Press; 1547-1549.
2. Lazo D, Contreras M, Hashmi M, Stanley W, Irazu C, Singh T. 1988 Peroxisomal lignoceroyl-CoA ligase deficiency in childhood adrenoleukodystrophy and adrenomyeloneuropathy. Proc Natl Acad Sci USA. 85:7647-7651.
3. Singh I, Moser AB, Goldfischer S, Moser HW. 1984 Lignoceric acid is oxidized in the peroxisomes: implication for the Zellweger cerebro-hepato-renal syndrome and adrenoleukodystrophy. Proc Natl Acad Sci USA. 81:4203-4207.
4. Wanders RJA, van Roermund CWT, van Wijland MJA, et al. 1988 Direct demonstration that the deficient oxidation of very long chain fatty acids in X-linked adrenoleukodystrophy is due to an impaired ability of peroxisomes to activate very long chain fatty acids. Biochem Biophys Res Commun. 153: 618-624.
5. 3H2) hexacosanoic acid and (15, 16-3h2) lignoceric acid in cultured skin fibroblasts from patients with adrenoleukodystrophy (ALD) and adrenomyeloneuropathy (AMN). J Neurol Sci. 71:359-367.
6. Fanconi VA, Prader A, Isler W, Luthy F, Siebenmann R. 1963 Morbus Addison mit Hirnsklerose im Kindesalter: Ein hereditares Syndrom mit X-chromosomaler Vererbung. Helv Paediatr Acta. 18:480-501.
7. Migeon BR, Moser HW, Moser AB, Axelman J, Sillence D, Norum RA. 1981 Adrenoleukodystrophy: evidence for X-linkage, inactivation, and selection favoring the mutant allele in heterozygous cells. Proc Natl Acad Sci USA. 78:5066-5070.
8. Aubourg P, Sack GH, Meyers DA, Lease JJ, Moser HW. 1987 Linkage of adrenoleukodystrophy to a polymorphic DNA probe. Ann Neurol. 21:240-249.
9. Aubourg P, Sack GH, Moser HW. 1988 Frequent alteration of visual pigment genes in adrenoleukodystrophy. Am J Hum Genet. 42:408-413.
10. Mosser J, Douar AM, Sarde CO, et al. 1993 Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters. Nature. 361:726-730.
11. Cohadon F, Vital C, Loiseau P, Henry P, Rivel J, Bonnaud E. 1975 Leucodystrophie avec insuffisance surrénalien (adrenoleucodystrophie). Rev Neurol. 131:6:407-418.
12. Schaumburg HH, Powers JH, Raine CS, Suzuki K. 1975 Adrenoleukodystrophy a clinical and pathological study of 17 cases. Arch Neurol. 33:577-591.
13. Powers JM, Schaumburg HH. 1974 Adreno-leukodystrophy: similar ultrastructural changes in adrenal cortical and Schwann cells. Arch Neurol. 30: 406-408.
14. Moser HW, Moser AB. 1989 X-linked adrenoleukodystrophy. In: Scriver CR, Beaudet AL, Sly WS, et al, eds. The metabolic basis of inherited disease, 6th ed, chapt 58. New York: McGraw-Hill; 1511-1532.
15. Moser HW, Bergin A, Naidu S, Ladenson PW. 1991 Adrenoleukodystrophy. In: Nelson DH, ed. Endocrinology and metabolism clinics of North America: new aspects of adrenal cortical disease. Philadelphia: Saunders; vol 20:297-318.
16. Aubourg P, Chaussain JL. 1991 Adrenoleukodystrophy presenting as Addison's disease in children and adults. Trends Endocrinol Metab. 2:49-52.
17. Antoku Y. 1988 Adrenoleukodystrophy: VLCFAs in erythrocytes. Neurology. 38:826.
18. Molzer B, Bernheimer H, Heller R, Toifl K, Vetterlein M. 1982 Detection of adrenoleukodystrophy by increased C26:0 fatty acid level in leukocytes. Clin Chim Acta. 125:299-305.
19. Moser HW, Moser AB, Frayer KK, et al. 1981 Adrenoleukodystrophy: increased plasma content of saturated very long chain fatty acid. Neurology. 31:1241-1249.
20. Moser HW, Moser AB, Kawamura N, et al. 1980 Adrenoleukodystrophy: elevated C26 fatty acid in cultured skin fibroblasts. Ann Neurol. 7:542-549.
21. Whitehead T, Thorper P, Carter C, Groccut C, Kricka L. 1983 Enhanced luminescence procedure tor sensitive determination of peroxidase-labelled conjugates in immunoassay. Nature. 305:158-160.
22. Betterle C, Zanette F, Zanchetta R, et al. 1983 Complement fixing adrenal antibodies as a marker for predicting onset of idiopathic Addison's disease. Lancet. 1:1238-1241.
23. Uziel G, Bertini E, Rimoldi M, Gambetti M. 1990 Italian multicentric dietary therapeutical trial in adrenoleukodystrophy. In: Adrenoleukodystrophy and other peroxisomial disorders: clinical, biochemical, genetic and therapeutic aspects. Amsterdam: Excerpta Medica; 163-180.
24. Grimes AM, Elks ML, Grunberger G, Pikus AM. 1983 Auditory brainstem responses in adrenomyeloneuropathy. Arch Neurol. 40:574-576.
25. Aubourg P, Adamsbaum C, Lavallard-Rousseau MC, et al. 1992 Brain MRI and electrophysiological abnormalities in preclinical and clinical adrenomyeloneuropathy. Neurology. 42:8.5-91.
26. Kimura J. 1983 Principles of nerve conduction velocity. In: Electrodiagnosis in diseases of nerve and muscle: principles and practice. Philadelphia: Davis; 83-104.
27. Sadeghi-Nejad A, Senior B. 1990 Adrenomyeloneuropathy presenting as Addison's disease in childhood. N Engl J Med. 322:13-16.
28. Jorge P, Quelhas D, Oliveira P, Pinto R, Nogueira A. 1944 X-Linked adrenoleukodystrophy in patients with idiopathic Addison disease. Eur J Pediatr. 153:594-597.
29. Holmberg BH, Hagg E, Duchek M, Hagenfeldt L. 1992 Screening of patients with hereditary spastic paraparesis and Addison's disease for adrenoleukodystrophy/adrenomyeloneuropathy. Acta Neurol Scand. 85:147-149.
30. Aubourg P, Blanche S, Jambaquè I, et al. 1990 Reversal of early neurologic and neuroradiologic manifestations of X-linked adrenoleukodystrophy by bone marrow transplantation. N Engl J Med. 322:1860-1866.