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Organic Acidaemias

How is it diagnosed?

The diagnosis is most often made by organic analysis of urine using gas chromatography/mass spectrometry (GCMS) or by analysis of acylcarnitines in blood using tandem mass spectrometry (TMS).

View What are the symptoms? What are the symptoms?  |  How is it treated? View How is it treated?

Medical text last updated November 2004 by Dr J Walter. Last updated December 2008 by Dr J Walker, Consultant Paediatrician in Metabolic Disorders, Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, Manchester, UK.

 

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