How are metabolic disorders diagnosed?

Many inherited metabolic disorders are diagnosed during routine tests that are done as soon as a baby is born. These tests usually include tissue samples and blood tests that doctors use to look for abnormalities in certain enzymes. Certain metabolic disorders can be diagnosed even earlier using tests like amniocentesis, which is done while a fetus is still in the womb. Unfortunately, diagnosing a metabolic disorder during childhood or adulthood can be more difficult because many of the symptoms are similar to those of other conditions. Non-inherited metabolic disorders, like type 2 diabetes, may be diagnosed by an examination of symptoms and a blood test. 

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