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 ?
Newborn screening for X-linked adrenoleukodystrophy (X-ALD): validation of a combined liquid chromatography-tandem mass spectrometric (LC-MS/MS) method.
The stability of hexacosanoyl lysophosphatidylcholine in dried-blood spot quality control materials for X-linked adrenoleukodystrophy newborn screening.
Direct demonstration that the deficient oxidation of very long chain fatty acids in X-linked adrenoleukodystrophy is due to an impaired ability of peroxisomes to activate very long chain fatty acids.
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.