Incidence of inherited metabolic disorders in southern Israel: a comparison between consanguinity and non-consanguinity communities

Abstract excerpt

BACKGROUND: Inherited metabolic disorders (IMDs) are group of rare monogenic diseases, usually derived from reduced or absent activity in a single metabolic pathway. Most of the IMDs are inherited in an autosomal recessive manner. The incidence of IMDs varies from country to country and within different ethnic groups, but data is still scarce. Consanguinity rate among populations is highly contributor factor for...

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