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Isolated adipic aciduria

D A Hasbini1, M A Mikati, Z M Habbal

  • 1Department of Pediatrics, American University of Beirut-Medical Center, Beirut, Lebanon.

Pediatric Neurology
|February 22, 2001
PubMed

Insights

Elevated adipic acid in urine can indicate metabolic disease, but this case highlights a dietary cause. Isolated adipic aciduria resolved with a restricted diet, suggesting a non-disease artifact.

Area of Science:

  • Biochemistry
  • Pediatrics
  • Metabolic Disorders

Background:

  • Adipic acid is a dicarboxylic acid that can be present in urine.
  • Elevated levels of adipic acid, or adipic aciduria, are often associated with underlying metabolic diseases.
  • Isolated adipic aciduria, without other dicarboxylic acids, is less common.

Observation:

  • A child presented with seizures and mental retardation of unknown origin.
  • Investigations for metabolic diseases revealed elevated isolated adipic aciduria.
  • A dietary cause was suspected due to the isolated nature of the finding.

Findings:

  • The child's adipic aciduria resolved within 3 days of initiating a specific restricted diet.
  • This case is the third reported instance of isolated adipic aciduria linked to dietary intake.
  • The findings support the hypothesis that diet can be a source of isolated adipic aciduria.

Implications:

  • Clinicians should consider dietary factors before diagnosing metabolic diseases in cases of isolated adipic aciduria.
  • Recognizing this dietary artifact can prevent unnecessary and potentially harmful treatments.
  • Further research into dietary influences on urinary dicarboxylic acid levels may be warranted.

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