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Hyperlysinemias

More information in Books or onNLM PubMed
Definition: 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)     
See Also Saccharopine Dehydrogenases 		Other names Periodic Hyperlysinemias; Periodic Hyperlysinemia; Lysine Alpha Ketoglutarate Reductase Deficiency Di; Hyperlysinemias, Periodic; Hyperlysinemias, Familial; Hyperlysinemia; Familial Hyperlysinemias; Familial Hyperlysinemia; Deficiency Disease, Lysine Alpha Ketoglutarate Red; Deficiency Disease, Alpha Aminoadipic Semialdehyde; Alpha Aminoadipic Semialdehyde Deficiency Disease; Hyperlysinemia, Familial; Deficiency Disease, Saccharopine Dehydrogenase; Hyperlysinemia, Periodic; Deficiency Disease, Lysine Alpha-Ketoglutarate Red; Deficiency Disease, Alpha-Aminoadipic Semialdehyde; Saccharopine Dehydrogenase Deficiency Disease; Lysine Alpha-Ketoglutarate Reductase Deficiency Di; Alpha-Aminoadipic Semialdehyde Deficiency Disease
 
SubstanceCAS Registry & nameCategoriesSource
Saccharopinuria  0   *Hyperlysinemias Saccharopine Dehydrogenases/deficiency.
AASS protein, human  EC 1.5.1.-   *Saccharopine Dehydrogenases Hyperlysinemias. J Biol Chem 1984;259(19):11643

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