Adrenoleukodystrophy
- PMID: 1879401
Adrenoleukodystrophy
Abstract
X-linked adrenoleukodystrophy (ALD) is a disorder of very long chain fatty acid (VLCFA) metabolism that can be diagnosed by demonstrating increased levels of VLCFA in plasma and, prenatally, by similar assays in cultured amniocytes or chorionic vilus samples. ALD causes Addison disease frequently in men and occasionally in women. Prompt diagnosis is important for genetic counseling and for the institution of therapies aimed to prevent or ameliorate the progressive neurologic disability that often is associated with this illness.
Similar articles
-
[Examination of very long chain fatty acids in diagnosis of x-linked adrenoleukodystrophy].Pediatr Pol. 1996 Mar;71(3):197-201. Pediatr Pol. 1996. PMID: 8966090 Polish.
-
X-linked adrenoleukodystrophy.Nat Clin Pract Neurol. 2007 Mar;3(3):140-51. doi: 10.1038/ncpneuro0421. Nat Clin Pract Neurol. 2007. PMID: 17342190 Review.
-
Evaluation of pharmacological induction of fatty acid beta-oxidation in X-linked adrenoleukodystrophy.Mol Genet Metab. 2001 Sep-Oct;74(1-2):256-63. doi: 10.1006/mgme.2001.3239. Mol Genet Metab. 2001. PMID: 11592822
-
[Familial adrenoleukodystrophy].J Genet Hum. 1985 Dec;33(5):427-34. J Genet Hum. 1985. PMID: 4093772 French.
-
[Very long chain fatty acids in the pathogenesis, prenatal and postnatal diagnosis of X-linked adrenoleukodystrophy].Med Pregl. 2007 Jul-Aug;60(7-8):401-3. Med Pregl. 2007. PMID: 17990810 Review. Serbian.
Cited by
-
Bleeding in a patient taking Lorenzo's oil: evidence for a vascular defect.Postgrad Med J. 1996 Feb;72(844):113-4. doi: 10.1136/pgmj.72.844.113. Postgrad Med J. 1996. PMID: 8871463 Free PMC article.
-
A new peroxisomal disorder with fetal and neonatal adrenal insufficiency.Arch Dis Child Fetal Neonatal Ed. 1994 Jul;71(1):F55-6. doi: 10.1136/fn.71.1.f55. Arch Dis Child Fetal Neonatal Ed. 1994. PMID: 8092875 Free PMC article.
-
Adrenomyeloneuropathy as a cause of primary adrenal insufficiency and spastic paraparesis.CMAJ. 2004 Oct 26;171(9):1073-7. doi: 10.1503/cmaj.1032006. CMAJ. 2004. PMID: 15505272 Free PMC article. Review.
-
Early diagnosis of cerebral X-linked adrenoleukodystrophy in boys with Addison's disease improves survival and neurological outcomes.Eur J Pediatr. 2011 Aug;170(8):1049-54. doi: 10.1007/s00431-011-1401-1. Epub 2011 Jan 29. Eur J Pediatr. 2011. PMID: 21279382 Free PMC article.
-
Adrenomyeloneuropathy presenting in adulthood.West J Med. 1998 Jan;168(1):45-7. West J Med. 1998. PMID: 9448496 Free PMC article. No abstract available.