Descriptors Found: 1
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Descriptor English:   Hyperlysinemias 
Descriptor Spanish:   Hiperlisinemias 
Descriptor Portuguese:   Hiperlisinemias 
Synonyms English:   Alpha Aminoadipic Semialdehyde Deficiency Disease
Alpha-Aminoadipic Semialdehyde Deficiency Disease
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, Familial
Hyperlysinemia, Periodic
Hyperlysinemias, Familial
Hyperlysinemias, Periodic
Hyperlysinuria With Hyperammonemia
Hyperlysinuria With Hyperammonemias
L Lysine:NAD Oxido Reductase Deficiency
L-Lysine:NAD-Oxido-Reductase Deficiencies
L-Lysine:NAD-Oxido-Reductase Deficiency
Lysine Alpha Ketoglutarate Reductase Deficiency Disease
Lysine Alpha-Ketoglutarate Reductase Deficiency Disease
Lysine:Alpha Ketoglutarate Reductase Deficiency
Lysine:Alpha-Ketoglutarate Reductase Deficiencies
Lysine:Alpha-Ketoglutarate Reductase Deficiency
Periodic Hyperlysinemia
Periodic Hyperlysinemias
Reductase Deficiencies, Lysine:Alpha-Ketoglutarate
Reductase Deficiency, Lysine:Alpha-Ketoglutarate
Saccharopine Dehydrogenase Deficiency Disease
With Hyperammonemia, Hyperlysinuria
With Hyperammonemias, Hyperlysinuria  
Tree Number:   C10.
Definition English:   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) 
See Related English:   Saccharopine Dehydrogenases
History Note English:   2000 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DG diagnostic imaging DH diet therapy
DT drug therapy EC economics
EM embryology EN enzymology
EP epidemiology EH ethnology
ET etiology GE genetics
HI history IM immunology
ME metabolism MI microbiology
MO mortality NU nursing
PS parasitology PA pathology
PP physiopathology PC prevention & control
PX psychology RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Record Number:   34233 
Unique Identifier:   D020167 

Occurrence in VHL: