hyperlysinemia
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Genetics
- autosomal recessive
- defects in AASS gene are a cause of hyperlysinemia
Laboratory
- hyperlysinemia
- lysinuria
- variable saccharopinuria
More general terms
Additional terms
- alpha-aminoadipic semialdehyde synthase, mitochondrial; LKR/SDH; includes: lysine ketoglutarate reductase; LKR; LOR; saccharopine dehydrogenase; SDH (AASS)
- lysine