X-linked adrenoleukodystrophy


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X-linked adrenoleukodystrophy

An X-linked recessive peroxisomal disease due to a defective gene on chromosome Xq28, which is characterised by impaired degradation of saturated very-long-chain fatty acids (VLCFAs) that accumulate with the cholesterol ester and gangliosides in the CNS, adrenal glands, plasma cells, and leukocytes, causing progressive multifocal demyelination.
 
Clinical findings
Variable; often first seen in childhood with major neurologic deterioration and death in a few years.
 
Management
Modifications in lipid intake may normalise VLCFA levels, the long-term effects of which are unknown; bone marrow transplantation.

It had been reported that a concoction of oleic and erucic acids–glycerol trioleate and trierucic acids (popularly, “Lorenzo’s Oil”) was of use in treating adrenoleukodystrophy or adrenomyeloneuropathy.

X-linked adrenoleukodystrophy

An X-R peroxisomal disease due to a defective gene on chromosome Xq28, characterized by impaired degradation of saturated very long chain fatty acids–VLCFAs that accumulate with the cholesterol ester and gangliosides in the CNS, adrenal glands, plasma cells, leukocytes, causing progressive multifocal demyelination Clinical Variable; often first seen in childhood with major neurologic deterioration and death in a few yrs Management Modifications in lipid intake may normalize VLCFA levels, the long-term effects of which are unknown, BMT. See Lorenzo's oil.
References in periodicals archive ?
[64] P Aubourg, "X-linked adrenoleukodystrophy," Annales d'Endocrinologie, vol.
Bartholomae et al., "Hematopoietic stem cell gene therapy with a lentiviral vector in X-linked adrenoleukodystrophy," Science, vol.
The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosis.
Newborn screening for X-linked adrenoleukodystrophy: further evidence high throughput screening is feasible.
The stability of hexacosanoyl lysophosphatidylcholine in dried-blood spot quality control materials for X-linked adrenoleukodystrophy newborn screening.
X-linked adrenoleukodystrophy (X-ALD) is a rare, genetic disorder affecting 1 in 17,000 people worldwide that causes adrenal gland dysfunction and loss of the protective sheath that surrounds nerve fibers in the central nervous system.
X-linked adrenoleukodystrophy. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds.
Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters.
Reversal of early neurologic and neuroradiologic manifestations of X-linked adrenoleukodystrophy by bone marrow transplantation.
Carrier identification of X-linked adrenoleukodystrophy by measurement of very long chain fatty acids and lignoceric acid oxidation.
A point mutation at ATP-binding region of the ALD gene in a family with X-linked adrenoleukodystrophy. Jpn J Hum Genet 1994;39:345-51.