Definition Hyperlysinemia type 1 is an autosomal recessive disorder OMIM:238700 with variable clinical features, including non-specific seizures, hypotonia, or mildly delayed psychomotor development. Up to half of probands are asymptomatic; hyperlysinemia is generally regarded as a benign metabolic defect.
Lab Increased serum lysine and pipecolic acid.
Molecular pathology Defects of AASS, which encodes aminoadipate-semialdehyde synthase, a bifunctional enzyme that catalyse lysine degradation, cause hyperlysinemia—type 1.
Synonyms Alpha-aminoadipic semialdehyde synthase deficiency, l-lysine:NAD-oxido-reductase deficiency, lysine:alpha-ketoglutarate reductase deficiency, lysine intolerance (in part)