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GTR Home > Conditions/Phenotypes > Hyperlysinemia

Hyperlysinemia

Synonyms
HYPERLYSINEMIA, TYPE I; Hyperlysinemias; L-lysine NAD-oxido-reductase deficiency; Lysine alpha-ketoglutarate reductase deficiency; Lysine intolerance
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Hyperlysinemia type I is an autosomal recessive metabolic condition with variable clinical features. Some patients who present in infancy with nonspecific seizures, hypotonia, or mildly delayed psychomotor development have been found to have increased serum lysine and pipecolic acid on laboratory analysis. However, about 50% of probands are reported to be asymptomatic, and hyperlysinemia is generally considered to be a benign metabolic variant (summary by Tondo et al., 2013; Houten et al., 2013). The AASS gene encodes a bifunctional enzyme: lysine alpha-ketoglutarate reductase and saccharopine dehydrogenase. In hyperlysinemia type I, both enzymatic functions of AASS are defective; in hyperlysinemia type II, also known as saccharopinuria (268700), some of the first enzymatic function is retained (Cox, 1985; Cox et al., 1986). [from OMIM]

Available tests

21 tests are in the database for this condition.

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Clinical tests (21 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: LKR/SDH, LKRSDH, LORSDH, AASS
    Summary: aminoadipate-semialdehyde synthase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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