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Inborn Errors of Metabolism

Inborn errors of metabolism are rare genetic disorders leading to enzyme deficiencies which in return causes either deficiencies of essential substances or excess accumulation of unusable substances leading to disruption to metabolic pathways to cause disease. This represents about 800 disorders.

Other Diseases

Rare or other disorders for our purposes are those disorders that affects less than 1 in 2000 people irrespective of the cause and this covers about 7000 disorders.


Inborn Errors of Metabolism

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Other Diseases

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