Page last updated: 2024-09-27

Alpha-Aminoadipic Semialdehyde Deficiency Disease

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)

Synonyms(12)

Synonym
Lysine Alpha-Ketoglutarate Reductase Deficiency Disease
Hyperlysinemia, Periodic
Hyperlysinemia
Alpha-Aminoadipic Semialdehyde Deficiency Disease
Hyperlysinemias
Saccharopine Dehydrogenase Deficiency Disease
Hyperlysinemia, Familial
Familial Hyperlysinemia
Deficiency Disease, Saccharopine Dehydrogenase
Deficiency Disease, Lysine Alpha-Ketoglutarate Reductase
Deficiency Disease, Alpha-Aminoadipic Semialdehyde
Hyperlysinuria With Hyperammonemia

Research Excerpts

Research

Studies (13)

TimeframeStudies, This Condition (%)All Conditions %
pre-19903 (23.08)23.3326
1990's0 (0.00)12.5806
2000's4 (30.77)18.1394
2010's4 (30.77)28.8240
2020's2 (15.38)9.53
DrugIndicatedRelationship StrengthStudiesTrials
ammonium hydroxide0low10
lactic acid0low10
pipecolic acid0low20
pyridoxal phosphate0low10
pyridoxine0low20
lysine0medium80
ornithine0low10
arginine0low10
magnesium sulfate0low10
saccharopine0low20
nadp0low10
nad0low10

Protein Targets (69)

ProteinPotency MeasurementsInhibition MeasurementsActivation MeasurementsDrugs
Chain A, MAJOR APURINIC/APYRIMIDINIC ENDONUCLEASE1001
Chain E, LYSINE, ARGININE, ORNITHINE-BINDING PROTEIN0022
Chain E, LYSINE, ARGININE, ORNITHINE-BINDING PROTEIN0022
Chain E, LYSINE, ARGININE, ORNITHINE-BINDING PROTEIN0022
thioredoxin reductase1001
phosphopantetheinyl transferase1001
NFKB1 protein, partial1001
GLS protein1001
thyroid stimulating hormone receptor1001
alpha-galactosidase1001
euchromatic histone-lysine N-methyltransferase 22002
cytochrome P450 2C19 precursor1001
chromobox protein homolog 11001
flap endonuclease 11001
DNA polymerase iota isoform a (long)1001
muscarinic acetylcholine receptor M11001
lethal factor (plasmid)1001
Cytochrome P450 3A40001
Nitric oxide synthase, endothelial0002
Nitric oxide synthase, brain0001
Nitric oxide synthase, brain 0001
Nitric oxide synthase, inducible0001
Nitric oxide synthase, inducible0013
Cationic amino acid transporter 30202
ATP-dependent phosphofructokinase1001
acetylcholinesterase1001
RAR-related orphan receptor gamma1001
AR protein2002
estrogen receptor 2 (ER beta)1001
cytochrome P450 family 3 subfamily A polypeptide 41001
retinoic acid nuclear receptor alpha variant 11001
estrogen-related nuclear receptor alpha1001
estrogen nuclear receptor alpha1001
cytochrome P450 2D61001
thyroid stimulating hormone receptor1001
v-jun sarcoma virus 17 oncogene homolog (avian)1001
cellular tumor antigen p53 isoform a1001
Integrin beta-31001
Integrin alpha-IIb1001
Chain A, Ribulose-1,5 bisphosphate carboxylase/oxygenase large subunit N-methyltransferase, chloroplast0101
Chain A, Ribulose-1,5 bisphosphate carboxylase/oxygenase large subunit N-methyltransferase, chloroplast0101
potassium voltage-gated channel subfamily H member 2 isoform d1001
Glutathione reductase, mitochondrial0202
Chain B, Exotoxin A0011
Chain B, Exotoxin A0011
Chain B, Exotoxin A0011
Chain A, ARGINASE 10101
Chain A, Arginase 10101
Chain A, ARGINASE 10101
Chain A, L-ARGININE\\:GLYCINE AMIDINOTRANSFERASE0101
Peroxisomal sarcosine oxidase0001
peripheral myelin protein 221001
Receptor-type tyrosine-protein phosphatase beta0001
Low molecular weight phosphotyrosine protein phosphatase0101
P2X purinoceptor 10011
P2X purinoceptor 10101
P2X purinoceptor 40011
Trans-sialidase0101
Trans-sialidase0101
P2X purinoceptor 20011
Chain A, HADH2 protein1001
Chain B, HADH2 protein1001
Chain A, 2-oxoglutarate Oxygenase1001
aldehyde dehydrogenase 1 family, member A11001
activating transcription factor 61001
15-hydroxyprostaglandin dehydrogenase [NAD(+)] isoform 11001
Pyridoxal kinase0001
Bile salt export pump0101
Bile salt export pump0101
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]