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How are inherited metabolic disorders diagnosed?

Many inherited metabolic disorders are found during routine tests and examinations done right after a child is born. Doctors can perform a blood test or use a tissue sample to determine whether a specific enzyme is missing or abnormal. Unfortunately, diagnosing a metabolic disorder during childhood or adulthood can be more difficult because the symptoms are similar to that of other conditions and diseases.

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Important: This content reflects information from various individuals and organizations and may offer alternative or opposing points of view. It should not be used for medical advice, diagnosis or treatment. As always, you should consult with your healthcare provider about your specific health needs.