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HyperlysinemiasLegal notice  


Other terms
Hyperlysinemia,Hyperlysinemia, Familial,Familial Hyperlysinemia,Familial Hyperlysinemias,Hyperlysinemias, Familial,Saccharopine Dehydrogenase Deficiency Disease,Deficiency Disease, Saccharopine Dehydrogenase,Lysine Alpha-Ketoglutarate Reductase Deficiency Disease,Lysine Alpha Ketoglutarate Reductase Deficiency Disease,Deficiency Disease, Lysine Alpha-Ketoglutarate Reductase,Deficiency Disease, Lysine Alpha Ketoglutarate Reductase,Alpha-Aminoadipic Semialdehyde Deficiency Disease,Alpha Aminoadipic Semialdehyde Deficiency Disease,Deficiency Disease, Alpha-Aminoadipic Semialdehyde,Deficiency Disease, Alpha Aminoadipic Semialdehyde,Hyperlysinemia, Periodic,Hyperlysinemias, Periodic,Periodic Hyperlysinemia,Periodic Hyperlysinemias

Description
Hyperlysinemias: 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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