These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: Phenotype heterogeneity among hemizygotes in a family biochemically screened for adrenoleukodystrophy.
    Author: Cotrufo R, Melone MA, Monsurro MR, Di Iorio G, Carella C, Moser HW.
    Journal: Am J Med Genet; 1987 Apr; 26(4):833-8. PubMed ID: 3591825.
    Abstract:
    We report on two clinically, neurologically normal relatives of a boy affected by adrenoleukodystrophy (ALD); they were found repeatedly to have the biochemical defect of an ALD hemizygote. The assay consisted in the determination of very-long-chain fatty acids in lyophilized and reconstituted plasma. While no evidence of neurologic disease (leukodystrophy or myeloneuropathy) was present in these hemizygotes, adrenocortical insufficiency provoking compensatory high ACTH release was found in both. These findings should be taken into consideration when counseling families in which cases with clinically expressed ALD are represented in several generations.
    [Abstract] [Full Text] [Related] [New Search]