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Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Amino Acid Metabolism, Inborn Errors > Hyperlysinemias
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Amino Acid Metabolism, Inborn Errors > Hyperlysinemias
Nutritional and Metabolic Diseases > Metabolic Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > Hyperlysinemias
... > Nervous System Diseases > Central Nervous System Diseases > Brain Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > Hyperlysinemias
Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Hyperlysinemias
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Hyperlysinemias

Preferred term

Hyperlysinemias  

Type

  • Topical Descriptor

Broader concept

Related concepts

Entry terms

  • Deficiencies, L-Lysine:NAD-Oxido-Reductase
  • Deficiencies, Lysine:Alpha-Ketoglutarate Reductase
  • Deficiency, L-Lysine:NAD-Oxido-Reductase
  • Deficiency, Lysine:Alpha-Ketoglutarate Reductase
  • Familial Hyperlysinemia
  • Familial Hyperlysinemias
  • Hyperlysinemia
  • Hyperlysinemia, Familial
  • Hyperlysinemias, Familial
  • L-Lysine:NAD-Oxido-Reductase Deficiencies
  • L Lysine:NAD Oxido Reductase Deficiency
  • L-Lysine:NAD-Oxido-Reductase Deficiency
  • Lysine:Alpha-Ketoglutarate Reductase Deficiencies
  • Lysine:Alpha Ketoglutarate Reductase Deficiency
  • Lysine:Alpha-Ketoglutarate Reductase Deficiency
  • Reductase Deficiencies, Lysine:Alpha-Ketoglutarate
  • Reductase Deficiency, Lysine:Alpha-Ketoglutarate

Scope note

  • 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)

History note

  • 2000

In other languages

URI

http://www.yso.fi/onto/mesh/D020167

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