Newborn screening for adrenoleukodystrophy: Implications for therapy

Molecular Diagnosis and Therapy

Volumn 11, Issue 6, 2007, Pages 381-384

  Raymond, Gerald V ^a   Jones, Richard O ^a   Moser, Ann B ^a  

^a KENNEDY KRIEGER INSTITUTE   (United States)

Author keywords

Adrenoleucodystrophy, diagnosis; Congenital disorders; Screening

Indexed keywords

CORTICOSTEROID; CORTICOTROPIN; HYDROCORTISONE; LORENZO OIL; VERY LONG CHAIN FATTY ACID;

ADDISON DISEASE; ADRENAL HORMONE THERAPY; ADRENAL INSUFFICIENCY; ADRENOLEUKODYSTROPHY; CLINICAL FEATURE; DIAGNOSTIC TEST; EARLY DIAGNOSIS; GENETIC DISORDER; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HLA SYSTEM; HORMONAL THERAPY; HORMONE BLOOD LEVEL; HUMAN; LIQUID CHROMATOGRAPHY; LOW FAT DIET; METABOLIC DISORDER; METHODOLOGY; MORBIDITY; NEWBORN SCREENING; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PATIENT MONITORING; PRIORITY JOURNAL; PROGNOSIS; REVIEW; RISK FACTOR; RISK REDUCTION; TANDEM MASS SPECTROMETRY;

EID: 37249045431     PISSN: 11771062     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF03256261     Document Type: Review

References (18)

1. Moser AB, Kreiter N, Bezman L, et al. Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls. Ann Neurol 1999; 45 (1): 100-10
2. Moser HW, Smith KD, Watkins PA, et al. X-linked adrenoleukodystrophy. In: Scriver CR, Beaudet AL, Sly WS, et al., editors. The metabolic and molecular bases of inherited disease. New York: McGraw Hill, 2000: 3257-301
3. Tagawa Y, Laroy W, Nimrichter L, et al. Anti-ganglioside antibodies bind with enhanced affinity to gangliosides containing very long chain fatty acids. Neurochem Res 2002; 27 (7-8): 847-55
4. Arienti G, Carlini E, Laureti S, et al. Red blood cell ghosts are affected by adrenoleucodystrophy. Eur J Clin Invest 1996; 26 (10): 917-22
5. Ho JK, Moser H, Kishimoto Y, et al. Interactions of a very long chain fatty acid with model membranes and serum albumin: implications for the pathogenesis of adrenoleukodystrophy. J Clin Invest 1995; 96 (3): 1455-63
6. Bezman L, Moser HW. Incidence of X-linked adrenoleukodystrophy and the relative frequency of its phenotypes. Am J Med Genet 1998; 76 (5): 415-9
7. van Geel BM, Bezman L, Loes DJ, et al. Evolution of phenotypes in adult male patients with X-linked adrenoleukodystrophy. Ann Neurol 2001; 49 (2): 186-94
8. Dubey P, Raymond GV, Moser AB, et al. Adrenal insufficiency in asymptomatic adrenoleukodystrophy patients identified by very long-chain fatty acid screening. J Pediatr 2005; 146 (4): 528-32
9. Peters C, Charnas LR, Tan Y, et al. Cerebral X-linked adrenoleukodystrophy: the international hematopoietic cell transplantation experience from 1982 to 1999. Blood 2004; 104 (3): 881-8
10. Shapiro E, Krivit W, Lockman L, et al. Long-term effect of bone-marrow transplantation for childhood-onset cerebral X-linked adrenoleukodystrophy. Lancet 2000; 356 (9231): 713-8
11. Mahmood A, Dubey P, Raymond GV, et al. Evaluating survival in nontransplanted boys with cerebral phenotype of x-linked adrenoleukodystrophy. Annals Neurol 2005; 58: S2
12. Hudspeth MP, Raymond GV. Immunopathogenesis of adrenoleukodystrophy: current understanding. J Neuroimmunol 2007; 182 (1-2): 5-12
13. Moser HW, Raymond GV, Lu SE, et al. Follow-up of 89 asymptomatic patients with adrenoleukodystrophy treated with Lorenzo's oil. Arch Neurol 2005; 62 (7): 1073-80
14. Costakos D, Abramson RK, Edwards JG, et al. Attitudes toward presymptomatic testing and prenatal diagnosis for adrenoleukodystrophy among affected families. Am J Med Genet 1991; 41 (3): 295-300
15. Therrell BL, Adams J. Newborn screening in North American. J Inherit Metab Dis 2007 Aug; 30 (4): 447-65
16. Rizzo C, Boenzi S, Wanders RJ, et al. Characteristic acylcarnitine profiles in inherited defects of peroxisome biogenesis: a novel tool for screening diagnosis using tandem mass spectrometry. Pediatr Res 2003; 53 (6): 1013-8
17. Ishikawa Y, Minami R, Nakao T. Diagnosis of adrenoleukodystrophy using dried blood spots. Tohoku J Exp Med 1985; 146 (1): 69-72
18. Hubbard WC, Moser AB, Tortorelli S, et al. Combined liquid chromatography-tandem mass spectrometry as an analytical method for high throughput screen ing for X-linked adrenoleukodystrophy and other peroxisomal disorders: preliminary findings. Mol Genet Metab 2006; 89 (1-2): 185-7