hyperlysinemia

(redirected from hyperlysinaemia)

hyperlysinemia

 [hi″per-li″sēn-e´me-ah]
a congenital type of aminoacidopathy characterized by elevated levels of lysine in the blood, and marked by vomiting, spasticity, coma, and mental retardation; symptoms are related to protein intake.

hy·per·ly·si·ne·mi·a

(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.

hy·per·ly·si·ne·mi·a

(hī'pĕr-lī-si-nē'mē-ă)
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 is associated with a deficiency of α-aminoadipic semialdehyde synthase, resulting in hyperlysinemia and saccharopinemia.
Synonym(s): lysinemia, hyperlysinaemia.

hy·per·ly·si·ne·mi·a

(hī'pĕr-lī-si-nē'mē-ă) [MIM*238700]
Metabolic disorder characterized by mental retardation, convulsions, anemia, and asthenia; associated with abnormal increase of amino acid lysine in the circulating blood due to a deficiency of lysine-ketoglutarate reductase.
Synonym(s): hyperlysinaemia.
References in periodicals archive ?
We also came across five cases of lens dislocation due to other causes (Trauma, Homocystinuria, Weill-Marchesani syndrome, Hyperlysinaemia).
(2,3,4,5,6,7,8,9,10) Less commonly, it has been reported with other disorders such as Lowe syndrome, Peter's anomaly, cri-du-chat syndrome, hyperlysinaemia, and rhizolemic form of chondrodysplasia punctata.