Lysine alpha-ketoglutarate reductase deficiency

Overview

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.

Symptoms

mental retardation, recurrent emesis, hypotonia, lethargy, diarrhea, and developmental delay