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Hyperlysinemias MeSH Descriptor Data 2023


MeSH Heading
Hyperlysinemias
Tree Number(s)
C10.228.140.163.100.380
C16.320.565.100.544
C16.320.565.189.380
C18.452.132.100.380
C18.452.648.100.544
C18.452.648.189.380
Unique ID
D020167
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D020167
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)
Entry Term(s)
Alpha-Aminoadipic Semialdehyde Deficiency Disease
Deficiency Disease, Alpha-Aminoadipic Semialdehyde
Deficiency Disease, Lysine Alpha-Ketoglutarate Reductase
Deficiency Disease, Saccharopine Dehydrogenase
Familial Hyperlysinemia
Hyperlysinemia
Hyperlysinemia, Familial
Hyperlysinemia, Periodic
Hyperlysinuria With Hyperammonemia
L-Lysine:NAD-Oxido-Reductase Deficiency
Lysine Alpha-Ketoglutarate Reductase Deficiency Disease
Lysine:Alpha-Ketoglutarate Reductase Deficiency
Saccharopine Dehydrogenase Deficiency Disease
Previous Indexing
Amino Acid Metabolism, Inborn Errors (1965-1999)
Lysine/metabolism (1966-1999)
See Also
Saccharopine Dehydrogenases
Public MeSH Note
2000
History Note
2000
Date Established
2000/01/01
Date of Entry
1999/11/03
Revision Date
2013/07/08
Hyperlysinemias Preferred
Hyperlysinemia, Periodic Narrower
Saccharopine Dehydrogenase Deficiency Disease Narrower
Alpha-Aminoadipic Semialdehyde Deficiency Disease Narrower
Lysine Alpha-Ketoglutarate Reductase Deficiency Disease Narrower
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