Adrenoleukodystrophy: Survey of 303 cases: Biochemistry, diagnosis, and therapy

@article{Moser1984AdrenoleukodystrophySO,
  title={Adrenoleukodystrophy: Survey of 303 cases: Biochemistry, diagnosis, and therapy},
  author={Hugo W. Moser and Ann E. Moser and Inderjit Singh and P. O'Neill},
  journal={Annals of Neurology},
  year={1984},
  volume={16}
}
Adrenoleukodystrophy (ALD) is a genetically determined disorder associated with progressive central demyelination and adrenal cortical insufficiency. All affected persons show increased levels of saturated unbranched very‐long‐chain fatty acids, particularly hexacosanoate (C26:0), because of impaired capacity to degrade these acids. This degradation normally takes place in a subcellular organelle called the peroxisome, and ALD, together with Zellweger's cerebrohepatorenal syndrome, is now… Expand
Adrenomyeloneuropathy presenting as Addison's disease in childhood.
TLDR
It is concluded that the possibility of adrenomyeloneuropathy should be considered in any boy with Addison's disease, because of a preponderance of male patients among a group of patients with the onset of adrenal failure in childhood. Expand
Adrenoleukodystrophy: case report.
  • Matloob Azam
  • Medicine
  • JPMA. The Journal of the Pakistan Medical Association
  • 1998
TLDR
At present no therapy is available for ALD, although, strategies such as dietary restrictions of VLCFA, use of clofibrate or carnitine, gammaglobulins, replacement of adrenal hormones and plasma exchange have been tried. Expand
Characterization of X-linked adrenoleukodystrophy in different biological specimens from ten Portuguese families
SummaryX-linked adrenoleukodystrophy (ALD) is a severe neurodegenerative disease characterized by progressive demyelination, adrenocortical insufficiency and accumulation in tissues and body fluidsExpand
X‐Linked Adrenoleukodystrophy
TLDR
The mechanisms that lead to the inflammatory reaction in cerebral ALD might involve abnormal acylation of gangliosides and phospholipids by VLCFA that would result in immune reaction of brain macrophages and astrocytes bearing CD1 molecules that recognize lipid antigens. Expand
Adrenoleukodystrophy: Biochemical procedures in diagnosis, prevention and treatment
TLDR
The childhood form of adrenoleukodystrophy is an X-linked recessive disorder which is characterized biochemically by elevated concentrations of saturated very long chain fatty acids in tissues and plasma and impaired veryLong chain fatty acid oxidation in fibroblasts and leukocytes from adrenoleUKody Strophy patients; thus, measurement of plasma C26:0 concentration by gas-liquid chromatography provides a rapid, sensitive method of diagnosis. Expand
Adrenoleukodystrophy: From Bedside to Molecular Biology
  • H. Moser
  • Biology, Medicine
  • Journal of child neurology
  • 1987
TLDR
A new dietary regimen, which combines restricted very long chain fatty acid intake with the administration of a glycerol trioleate oil, is capable of reducing plasma very longChain fatty acid levels, and may offer neurological benefit. Expand
Management of adrenoleukodystrophy: From pre-clinical studies to the development of new therapies.
  • Chui Yan Ma, Cheng Li, +7 authors Q. Lian
  • Medicine
  • Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie
  • 2021
TLDR
The clinical and biochemical features of X-ALD are summarized, the progress of pre-clinical and clinical studies are reviewed, and challenges and perspectives for future X-ald studies are discussed. Expand
Adrenal steroids in adrenomyeloneuropathy
Adrenoleukodystrophy (ALD) and its adult variant adrenomyeloneuropathy (AMN) are X-linked diseases associated with a deficiency in the peroxisomal degradation of saturated very long chain fatty acidsExpand
Observations About the Phenotype of Peroxisomal Disorders
TLDR
The results indicate that peroxisomal disorders are heterogeneous and that, as knowledge increases, their classification will be altered. Expand
DNA diagnosis of X-linked adrenoleukodystrophy
TLDR
The X-linked adrenoleukodystrophy gene was identified recently and is predicted to encode a 745-amino-acid peroxisomal membrane protein that can be traced in all at-risk individuals of that family, both post- and prenatally, without the need for very long-chain fatty acid (VLCFA) analysis. Expand
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A 12 year old boy who presented with rapid onset of blindness and underlying Addison's disease recovered vision during maintenance with hydrocortisone and fludrocortisone acetate. At age 21 heExpand
Neonatal adrenoleukodystrophy: clinical, pathologic, and biochemical delineation of a syndrome affecting both males and females.
TLDR
The basic biochemical defect appears to be a diminished capacity to oxidize fatty acids leading to accumulation in cholesterol esters, which is most probably autosomally recessive in inheritance. Expand
New phenotypic variant of adrenoleukodystrophy Pathologic, ultrastructural, and biochemical study in two brothers
TLDR
In the two brothers reported here, the nature of the primary cerebral disorder was not recognized, and hemogenic hydrocephalus due to traumatic birth injury was held responsible for the psychomotor retardation and cerebral palsy. Expand
Adrenoleukodystrophy: clinical and biochemical manifestations in carriers.
TLDR
Any woman at risk in an ALD kinship, and who demonstrates a spastic paraparesis, should be assumed to be a carrier until biochemical testing is obtained, and measurement of plasma VLCFA levels should be done initially. Expand
Familial X‐linked Addison disease as an expression of adrenoleukodystrophy (ALD)
TLDR
The results of the study of a unique family among whom clinically apparent Addison disease without neurologic involvement has occurred in affected males, and spastic para-paresis has occur in female carriers are presented. Expand
The cerebrohepatorenal (Zellweger) syndrome. Increased levels and impaired degradation of very-long-chain fatty acids and their use in prenatal diagnosis.
TLDR
Evidence is extended that the Zellweger syndrome belongs to the newly formulated category of peroxisomal disorders by demonstrating fivefold or greater increases of very-long-chain fatty acid levels, particularly hexacosanoic acid and hexacosenoic acid, in plasma and cultured skin fibroblasts from 20 patients. Expand
The Prenatal Diagnosis of Adrenoleukodystrophy. Demonstration of Increased Hexacosanoic Acid Levels in Cultured Amniocytes and Fetal Adrenal Gland
TLDR
The capacity to identify the adrenoleukodystrophy hemizygote prenatally together with the availability of tests of plasma and/or cultured skin fibroblasts, which can identify most women heterozygote for this disorder, provide the opportunity for families at risk for ALD to have normal children. Expand
PEROXISOMES AND HUMAN METABOLIC DISEASES: THE CEREBROHEPATORENAL SYNDROME (CHRS), CEREBROTENDINOUS XANTHOMATOSIS, AND SCHILDER'S DISEASE (ADRENOLEUKODYSTROPHY) *
Infants with Zellweger's CHRS, an autosomal recessive disorder, usually die within 1 year. They are generally hypotonic and have a characteristic facial appearance, brain maturation defects,Expand
Adrenoleukodystrophy: unusual computed tomographic appearance.
TLDR
The clinical, pathologic, and CT findings of a boy with ALD whose CT brain scan initially demonstrated a unilateral low-attenuation lesion in the white matter of the parietal lobe with ventricular distortion suggestive of mass effect are reported. Expand
Neonatal‐onset adrenoleukodystrophy in a girl
TLDR
The documentation of abnormal long‐chain fatty acids in cerebral tissues of a female patient supports the concept that infantile‐onset ALD is a clinically and pathologically distinctive entity characterized by prominent visceral storage abnormalities and occurrence in both sexes. Expand
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