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Also known as: organic acid quantitation – MMA, urinary organic acids: isolation and quantitation, metabolic analysis profile.
Organic acid quantitation - methylmalonic acid is a test that can help diagnose a rare metabolic genetic disorder known as methylmalonic acidemia (MMA). The test measures the levels of an organic acid known as methylmalonic acid in the urine. High levels are usually a sign of methylmalonic acidemia.
A sample of urine is required for organic acid quantitation. The sample is then sent to a laboratory for further testing and analysis.
The patient may need to fast for several hours before giving a urine sample.
There are no risk factors related to this test.
Reviewed by: Sajel L Kana, MD
This page was last updated on: July 29, 2022 04:59 PM
Our clinical geneticists and genetic counselors at Nicklaus Children's Hospital evaluate children with developmental delays, unusual facial features, metabolic disorders, seizures, craniofacial anomalies and failure to thrive.
Metabolic storage diseases are a fairly large group of rare genetic inherited disorders in which specific enzymes of a child's cell are insufficient. Enzymes help break down certain materials within the cell for proper cell function.