Phenotype heterogeneity among hemizygotes in a family biochemically screened for adrenoleukodystrophy.
Am J Med Genet
; 26(4): 833-8, 1987 Apr.
Article
em En
| MEDLINE
| ID: mdl-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.
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Base de dados:
MEDLINE
Assunto principal:
Esclerose Cerebral Difusa de Schilder
/
Adrenoleucodistrofia
Idioma:
En
Ano de publicação:
1987
Tipo de documento:
Article