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hyperlysinemia

Pronunciation: hi'per-li'si-ne'me-a

Definition: A metabolic disorder characterized by mental retardation, convulsions, anemia, and asthenia; associated with an abnormal increase of the amino acid lysine in the circulating blood due to a deficiency of lysine-ketoglutarate reductase. One variant [MIM*268700] is associated with a deficiency of a-aminoadipic semialdehyde synthase, resulting in hyperlysinemia and saccharopinemia.

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.

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