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hyperlyzinémie

Heslo	hyperlyzinémie
Heslo anglicky	Hyperlysinemias
Odkazy	choroba z deficitu semialdehydu kyseliny alfa-aminoadipovej choroba z deficitu lyzín-alfa-ketoglutarátreduktázy choroba z deficitu sacharopíndehydrogenázy
Angl. X odkazy	Alpha-Aminoadipic Semialdehyde Deficiency Disease Lysine Alpha-Ketoglutarate Reductase Deficiency Disease Saccharopine Dehydrogenase Deficiency Disease
Vysvetľujúca pozn. v angl.	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)
Pozri aj (FX) v slov.	sacharopíndehydrogenázy
Pozri aj (FX) v angl.	Saccharopine Dehydrogenases
Odkazy	(1) - heslo MeSH

predmetové heslo

Počet záznamov: 1