In a family with 8 children one case of adrenoleucodystrophy (ALD), verified by autopsy, 2 cases with clinical signs of ALD and four other clinically healthy subjects with pathological ACTH tests were found.
However, basal morning plasma adrenocorticotropic hormone (ACTH) levels were markedly elevated in the two males with ALD and AMN, despite the fact that they had no clinical signs of adrenal insufficiency and that morning plasma cortisol levels and their response to maximal exogenous ACTH stimulation appeared to be normal.
A patient with ALD who as yet had no neurologic symptoms showed only minimal abnormality of the BAERs, consisting of prolongation of the latency of wave V. In the remaining nine patients, only wave I generated in the extramedullary portion of the eighth nerve was recorded with or without a wave II.
Although recent data established that a specific very-long-chain fatty acyl-CoA synthetase is defective in X-linked adrenoleukodystrophy (ALD), the ALD gene is still unidentified.
This finding and the previous findings of a 45% frequency of phenotypic color vision defects in patients with AMN may suggest that the ALD/AMN gene lies 5' to the red pigment gene and that the frequent phenotypic color vision anomalies owe their origin to deleted DNA that includes regulatory genes for color vision.
There are numerous other varieties of HMSN including other autosomal dominant conditions such as HMSN-II (with nearly normal motor NCV) and several types of familial amyloid neuropathy (with specific amino acid substitutions in transthyretin); autosomal recessive conditions such as HMSN-III (Déjérine-Sottas hypertrophic neuropathy of childhood) and Refsum's disease (defect of phytanic acid metabolism); and conditions produced by mutations on the X chromosome such as X-linked HMSN, Fabry trihexoside storage disease, and adrenomyeloneuropathy.
Adrenoleukodystrophy and other peroxisomal disorders that affect the nervous system, including new observations on L-pipecolic acid oxidase in primates.
Linkage studies between X-linked adrenoleukodystrophy and a cloned deoxyribonucleic acid fragment (St14), which detects polymorphisms in the distal end of the long arm of the X chromosome (Xq27-28), have shown no recombination in six families.
However, the father and other patients with variant forms of adrenoleukodystrophy showed normal beta-galactosidase and other lysosomal enzyme activities.
Hybridization studies using the cloned DNA fragment St14 detects polymorphisms in the distal end of the long arm of the X chromosome (Xq27-28) and six informative kindreds have shown co-segregation of adrenoleukodystrophy and the St14 marker through 65 meioses.
Significantly, one child with asymptomatic ALD and both heterozygous female relatives showed abnormal ABRs, demonstrating the high sensitivity of ABR in detection of the existence of pathophysiological condition in subclinical or presymptomatic ALD.
With a newly devised method of high-performance liquid chromatography (HPLC), we scrutinized lipid extraction of very-long-chain fatty acids of cultured skin fibroblasts from obligate (n = 4) and possible (n = 3) carriers for adrenoleukodystrophy (ALD) in order to establish the best method to detect a carrier for the ALD gene.
In contrast, acyl-CoA oxidase and beta-ketothiolase were present in neonatal ALD liver, although the thiolase appeared to be in precursor form (2-3 kDa larger than the mature enzyme) in neonatal ALD.
In contrast, acyl-CoA oxidase and beta-ketothiolase were present in neonatal ALD liver, although the thiolase appeared to be in precursor form (2-3 kDa larger than the mature enzyme) in neonatal ALD.
In contrast, acyl-CoA oxidase and beta-ketothiolase were present in neonatal ALD liver, although the thiolase appeared to be in precursor form (2-3 kDa larger than the mature enzyme) in neonatal ALD.
Pipecolic acid was elevated, often markedly, in most of the patients with NALD but in none of those with X-linked ALD or adrenomyeloneuropathy, or in normal adults and children, or children with cirrhosis or other neurodegenerative disorders.