About The Medical Condition Lysine Alpha-Ketoglutarate Reductase Deficiency Disease
Find the definition of the medical term Lysine Alpha-Ketoglutarate Reductase Deficiency Disease. Lysine Alpha-Ketoglutarate Reductase Deficiency Disease defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Lysine Alpha-Ketoglutarate Reductase Deficiency Disease
Lysine Alpha-Ketoglutarate Reductase Deficiency Disease Medical Condition |
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What's The Definition Of The Medical Condition Lysine Alpha-Ketoglutarate Reductase Deficiency Disease?
A group of inherited metabolic disorders which have in common elevations of serum LYSINE levels. Enzyme deficiencies of alpha-aminoadipic semialdehyde dehydrogenase and the SACCHAROPINE DEHYDROGENASES have been associated with hyperlysinemia. Clinical manifestations include mental retardation, recurrent emesis, hypotonia, lethargy, diarrhea, and developmental delay. (From Menkes, Textbook of Child Neurology, 5th ed, p56)
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