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单词 neonatal adrenoleukodystrophy
释义

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neonatal adrenoleukodystrophy
Originally: an inherited (X-linked recessive) disorder characterized by atrophy of the adrenal cortex and degeneration of the white matter of the nervous system, typically appearing in prepubertal boys, and leading to Addisonian symptoms, spastic paralysis, and mental deterioration. Later also (more fully neonatal adrenoleukodystrophy): a similar disorder inherited in an autosomal recessive manner and appearing in infancy.Both forms of adrenoleukodystrophy are associated with an inability to break down very long chain fatty acids, leading to their accumulation in body tissues.
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1973 Arch. Pathol. 96 305/2 Sections of autopsy-obtained adrenal gland were available from nine male patients with adreno-leukodystrophy.
1985 Jrnl. Cell Biol. 100 1789/1 Other syndromes such as neonatal adrenoleukodystrophy share many of the clinical, biochemical, and morphological syndromes of CHRS [= cerebrohepatorenal syndrome].
1993 Newsweek 25 Jan. 48/1 He began falling down and slurring his words,..his vision and hearing began to fail—baffling symptoms that were finally diagnosed as adrenoleukodystrophy, or ALD, a rare, inherited nerve disorder that typically causes death within months or years.
2008 Daily Tel. 2 June 25/2 At the time that the film was made, Lorenzo was 14 and had been suffering for eight years from adrenoleukodystrophy (ALD) a genetic disease affecting mainly boys, which usually results in brain failure and, ultimately, death.
extracted from adrenoleukodystrophyn.
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