Recurrent Anion Gap Acidosis: An Unusual Presentation of X-Linked Adrenoleukodystrophy in a Five-year-old Male

Clin Pediatr Endocrinol. 2010 Jan;19(1):15-8. doi: 10.1297/cpe.19.15. Epub 2010 Mar 11.


We are presenting a five-year-old male with recurrent anion gap acidosis. During his last admission, it was detected that he had elevated VLCFA and the evaluation discovered that he had X-linked Adrenooleukodystrophy. He had the Addisonian only phenotype without any clinical or radiographic CNS findings. We were unable to find any other reports of this presentation of ALD. If the work-up of recurrent anion gap acidosis does not uncover an etiology, X-linked ALD should be considered in the differential diagnosis.

Keywords: adrenoleukodystrophy; anion gap metabolic acidosis.

Publication types

  • Case Reports