Mesh term Hyperlysinemias
Browse to parent terms:Amino Acid Metabolism, Inborn Errors
Brain Diseases, Metabolic, Inborn
Description
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)Search for this term in our Faculty Database
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