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Hyperlysinemias (Hyperlysinemia)

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)
Also Known As:
Hyperlysinemia; Deficiency Disease, Alpha-Aminoadipic Semialdehyde; Deficiency Disease, Lysine Alpha-Ketoglutarate Reductase; Deficiency Disease, Saccharopine Dehydrogenase; Hyperlysinemia, Familial; Hyperlysinemia, Periodic; Alpha Aminoadipic Semialdehyde Deficiency Disease; Deficiency Disease, Alpha Aminoadipic Semialdehyde; Deficiency Disease, Lysine Alpha Ketoglutarate Reductase; Familial Hyperlysinemia; Familial Hyperlysinemias; Hyperlysinemias, Familial; Hyperlysinemias, Periodic; Lysine Alpha Ketoglutarate Reductase Deficiency Disease; Periodic Hyperlysinemia; Periodic Hyperlysinemias; Alpha-Aminoadipic Semialdehyde Deficiency Disease; Lysine Alpha-Ketoglutarate Reductase Deficiency Disease; Saccharopine Dehydrogenase Deficiency Disease
Networked: 32 relevant articles (0 outcomes, 3 trials/studies)

Disease Context: Research Results

Related Diseases

1. Hyperammonemia
2. Hyperlysinemias (Hyperlysinemia)
3. Citrullinemia
4. Propionic Acidemia
5. Infantile Refsum Disease (Infantile Phytanic Acid Storage Disease)

Experts

1. Houten, Sander M: 2 articles (09/2014 - 01/2013)
2. Te Brinke, Heleen: 2 articles (09/2014 - 01/2013)
3. Denis, Simone: 2 articles (09/2014 - 01/2013)
4. Zanatta, Angela: 2 articles (02/2011 - 06/2009)
5. Leipnitz, Guilhian: 2 articles (02/2011 - 06/2009)
6. Wajner, Moacir: 2 articles (02/2011 - 06/2009)
7. Seminotti, Bianca: 2 articles (02/2011 - 06/2009)
8. Millington, David S: 1 article (09/2014)
9. Frazier, Dianne M: 1 article (09/2014)
10. Wanders, Ronald J A: 1 article (09/2014)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Hyperlysinemias:
1. saccharopineIBA
2. Saccharopine Dehydrogenases (Saccharopine Dehydrogenase (NAD+, L-Glutamate Forming))IBA
3. OxidoreductasesIBA
4. EnzymesIBA
5. acylcarnitineIBA
6. Lysine (L-Lysine)FDA Link
7. SaccharopinuriaIBA
8. Urea (Carbamide)FDA LinkGeneric
9. pipecolic acidIBA
10. allysineIBA