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hyperlysinemia

Genetics: 1) autosomal recessive 2) defects in AASS gene are a cause of hyperlysinemia Laboratory: 1) hyperlysinemia 2) lysinuria 3) variable saccharopinuria

Related

alpha-aminoadipic semialdehyde synthase, mitochondrial; LKR/SDH; includes: lysine ketoglutarate reductase; LKR; LOR; saccharopine dehydrogenase; SDH (AASS) lysine

General

inborn error of metabolism

Database Correlations

OMIM 238700

References

  1. OMIM :accession 238700
  2. UniProt :accession Q9UDR5