Adrenoleukodystrophy in Israel: A genetic, clinical and biochemical study

J. Chemke, E. Lieberman, R. Carmi, Y. Abarbanel, H. Costeff, Y. Goldhammer, H. W. Moser

Research output: Contribution to journalArticlepeer-review

3 Scopus citations


Adrenoleukodystrophy (ALD) is a fatal X-linked recessive lipid storage disease characterized by progressive CNS demyelination and adrenal insufficiency. Adrenomyeloneuropathy (AMN) is a variant of ALD, with a later onset and more prolonged course, presenting as a peripheral myeloneuropathy. A wide spectrum of clinical manifestations exists in both forms of the ALD complex. Affected infants are clinically normal at birth and in early infancy. Progressive cerebral dysfunction and adrenal failure appear usually between 5 and 10 years of age. Brain white matter macrophages, adrenal cortical cells and other tissues contain characteristic cytoplasmic inclusions. The specific biochemical abnormality in the ALD complex is an accumulation of very long-chain fatty acids (VLCFA) in different tissues and plasma, mainly tetracosanoic (C24:0) and hexacosanoic (C26:0) acids. Metabolic studies have been consistent with an oxidative defect of VLCFA. Clinical, genetic and biochemical data are presented on the first six families with documented ALD in Israel. There appears to be no ethnic predilection. ALD and AMN are found concomitantly, and all clinical forms are present.

Original languageEnglish
Pages (from-to)1123-1132
Number of pages10
JournalIsrael Journal of Medical Sciences
Issue number12
StatePublished - 1 Dec 1984
Externally publishedYes

ASJC Scopus subject areas

  • Bioengineering


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