ETHYLMALONIC ADIPIC ACIDURIA - A TREATABLE HEPATOMUSCULAR DISORDER IN2 ADULT BROTHERS

An adult male presented at 28 years of age with muscle weakness and li ver dysfunction. His brother had died suddenly 2 years earlier after p resenting with Reye's syndrome. Urine organic acid analysis and muscle and cultured fibroblast fatty acid oxidation studies confirmed a diag nosis of ethylmalonic/adipic aciduria - an inherited defect of fatty a cid oxidation. The patient responded favourably to treatment with a lo w fat/high carbohydrate diet supplemented with riboflavin. This case h ighlights the importance of considering inborn errors of metabolism, i n particular fatty acid oxidation defects, in adults with liver diseas e, muscle disease or Reye's syndrome.