Diseases

Hyperlysinemias

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. (From Menkes, Textbook of Child Neurology, 5th ed, p56)

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

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. (From Menkes, Textbook of Child Neurology, 5th ed, p56)

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MeSH Record

Synonyms

37 entry terms
  • Familial Hyperlysinemia
  • Hyperlysinemia
  • Hyperlysinemia, Familial
  • L-Lysine:NAD-Oxido-Reductase Deficiency
  • Lysine:Alpha-Ketoglutarate Reductase Deficiency
  • Deficiencies, L-Lysine:NAD-Oxido-Reductase
  • Deficiencies, Lysine:Alpha-Ketoglutarate Reductase
  • Deficiency, L-Lysine:NAD-Oxido-Reductase
  • Deficiency, Lysine:Alpha-Ketoglutarate Reductase
  • Familial Hyperlysinemias
  • Hyperlysinemias, Familial
  • L Lysine:NAD Oxido Reductase Deficiency
  • L-Lysine:NAD-Oxido-Reductase Deficiencies
  • Lysine:Alpha Ketoglutarate Reductase Deficiency
  • Lysine:Alpha-Ketoglutarate Reductase Deficiencies
  • Reductase Deficiencies, Lysine:Alpha-Ketoglutarate
  • Reductase Deficiency, Lysine:Alpha-Ketoglutarate
  • Alpha-Aminoadipic Semialdehyde Deficiency Disease
  • Deficiency Disease, Alpha-Aminoadipic Semialdehyde
  • Deficiency Disease, Lysine Alpha-Ketoglutarate Reductase
  • Deficiency Disease, Saccharopine Dehydrogenase
  • Hyperlysinemia, Periodic
  • Hyperlysinuria With Hyperammonemia
  • Lysine Alpha-Ketoglutarate Reductase Deficiency Disease
  • Saccharopine Dehydrogenase Deficiency Disease
  • Alpha Aminoadipic Semialdehyde Deficiency Disease
  • Deficiency Disease, Alpha Aminoadipic Semialdehyde
  • Deficiency Disease, Lysine Alpha Ketoglutarate Reductase
  • Hyperammonemia, Hyperlysinuria With
  • Hyperammonemias, Hyperlysinuria With
  • Hyperlysinemias, Periodic
  • Hyperlysinuria With Hyperammonemias
  • Lysine Alpha Ketoglutarate Reductase Deficiency Disease
  • Periodic Hyperlysinemia
  • Periodic Hyperlysinemias
  • With Hyperammonemia, Hyperlysinuria
  • With Hyperammonemias, Hyperlysinuria

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Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Record

History Note

2000

MeSH Record

Previous Indexing

  • Amino Acid Metabolism, Inborn Errors (1965-1999)
  • Lysine/metabolism (1966-1999)

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References

  1. National Library of Medicine. Hyperlysinemias. Medical Subject Headings (MeSH). 2026. Unique ID D020167. http://id.nlm.nih.gov/mesh/2026/D020167
  2. Hyperlysinemias. In: Wikipedia. https://en.wikipedia.org/wiki/Hyperlysinemia
  3. Hyperlysinemias. In: Wikidata. https://www.wikidata.org/wiki/Q10295763