NEUROMUSCULAR CASE OF THE MONTH - JULY 2015

What is Your Metabolic Diagnosis?

G. Diane Shelton DVM, PhD
UCSD, La Jolla CA 92093

Quantitative urinary organic acid analysis can provide a specific diagnosis of an inherited metabolic disease. For interpretation of the laboratory results, large peaks in metabolites or a specific pattern of elevated metabolites need to be identified. In the report shown below, a large peak (marked elevation) in 2-OH glutaric acid is shown diagnostic of 2-OH glutaric aciduria, an inborn metabolic error. Several other metabolites show minimal to mildly excessive urinary excretion suggesting these are secondary abnormalities and not the primary problem.

 

 

 


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