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.

单词	x-linked adrenoleukodystrophy
释义	X-linked adrenoleukodystrophy X-linked adrenoleukodystrophy [¦eks ‚liŋkt ə‚drē·nō‚lü·kə′dis·trə·fē] (medicine) An inherited peroxisomal disorder in which a defective peroxisomal membrane protein results in impaired ?-oxidation of very long chain fatty acids, which subsequently accumulate in the adrenal glands, nervous system, and testes and disrupt normal activity. X-linked adrenoleukodystrophy 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. AcronymsSeeX-ALD
随便看	catch them at a bad time catch them bang to rights catch them by surprise catch them cold catch them dead to rights catch them flat-footed catch them in catch them in the act catch them later catch them napping catch them off balance catch them on the hop catch them on the raw catch them out catch them red-handed catch themselves catch them up in catch them up on catch them with catch them with hand in the cookie jar catch them with hands in the cookie jar catch them with their fingers in the till catch them with their hand in the cookie jar catch them with their hand in the till catch them with their hands in the cookie jar