hyperlysinemia


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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.

hyperlysinemia

/hy·per·ly·sin·emia/ (-li″sĭ-ne´me-ah)
1. excess of lysine in the blood.
2. an aminoacidopathy characterized by excess of lysine, and sometimes of saccharopine, in the blood and urine, possibly associated with mental retardation.

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.

hyperlysinemia

elevated levels of lysine in the blood.