Skip navigation

Disease Hyperlysinemias

Name Hyperlysinemias
Synonyms Alpha Aminoadipic Semialdehyde Deficiency Disease | Alpha-Aminoadipic Semialdehyde Deficiency Disease | ALPHA-AMINOADIPIC SEMIALDEHYDE SYNTHASE DEFICIENCY | Deficiencies, L-Lysine:NAD-Oxido-Reductase | Deficiencies, Lysine:Alpha-Ketoglutarate Reductase | Deficiency Disease, Alpha Aminoadipic Semialdehyde | Deficiency Disease, Alpha-Aminoadipic Semialdehyde | Deficiency Disease, Lysine Alpha Ketoglutarate Reductase | Deficiency Disease, Lysine Alpha-Ketoglutarate Reductase | Deficiency Disease, Saccharopine Dehydrogenase | Deficiency, L-Lysine:NAD-Oxido-Reductase | Deficiency, Lysine:Alpha-Ketoglutarate Reductase | Familial Hyperlysinemia | Familial Hyperlysinemias | Hyperammonemia, Hyperlysinuria With | Hyperammonemias, Hyperlysinuria With | Hyperlysinemia | Hyperlysinemia, Familial | Hyperlysinemia, Periodic | Hyperlysinemias, Familial | Hyperlysinemias, Periodic | HYPERLYSINEMIA, TYPE I | Hyperlysinuria With Hyperammonemia | Hyperlysinuria With Hyperammonemias | 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 | Lysine Alpha Ketoglutarate Reductase Deficiency Disease | Lysine Alpha-Ketoglutarate Reductase Deficiency Disease | LYSINE INTOLERANCE | Periodic Hyperlysinemia | Periodic Hyperlysinemias | Reductase Deficiencies, Lysine:Alpha-Ketoglutarate | Reductase Deficiency, Lysine:Alpha-Ketoglutarate | Saccharopine Dehydrogenase Deficiency Disease | With Hyperammonemia, Hyperlysinuria | With Hyperammonemias, Hyperlysinuria
Definition 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)
Categories Genetic disease (inborn) | Metabolic disease | Nervous system disease
MeSH® ID D020167
OMIM® ID 238700
External Links

Top ↑ Ancestors

1. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Central Nervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic Has associated chemicals Has associated genes Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Hyperlysinemias Has associated chemicals Has associated genes
2. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Amino Acid Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Hyperlysinemias Has associated chemicals Has associated genes
3. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Hyperlysinemias Has associated chemicals Has associated genes
4. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic Has associated chemicals Has associated genes Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Hyperlysinemias Has associated chemicals Has associated genes
5. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Amino Acid Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Hyperlysinemias Has associated chemicals Has associated genes
6. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Hyperlysinemias Has associated chemicals Has associated genes

Top ↑ Descendants

Hyperlysinemias Has associated chemicals Has associated genes
  Hyperlysinemia Due To Defect In Lysine Transport Into Mitochondria
  Lysine Intolerance
  Saccharopinuria Has associated chemicals Has associated genes