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(hī'pĕr-lī'si-nē'mē-ă), [MIM*238700]
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 α-aminoadipic semialdehyde synthase, resulting in hyperlysinemia and saccharopinemia.
Farlex Partner Medical Dictionary © Farlex 2012


A heterogeneous group of diseases with ↑ lysine or its metabolites in the blood, including hyperlysinemia, types I and II, saccharopurinuria, hydroxylysinuria, pipecolic acidemia and α-ketoadipic aciduria
McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.


Synonym(s): hyperlysinemia, lysinaemia.
Medical Dictionary for the Health Professions and Nursing © Farlex 2012