3-hydroxy-3-methylglutaric aciduria (HMG)

Diagnosis and Testing

How do I get tested for 3-Hydroxy-3-Methylglutaric Aciduria (HMG)?

If the newborn screen comes back positive for 3-Hydroxy-3-methylglutaric aciduria, follow up testing would need to be completed for a positive diagnosis of 3-Hydroxy-3-methylglutaric aciduria. This involves testing the blood and urine of the patient to look for organic acid and amino acid levels. There is a specific pattern of these that would indicate a positive diagnosis of 3-Hydroxy-3-methylglutaric aciduria.

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