Page last updated: 2024-09-27

Carbamoyl-Phosphate Synthase I Deficiency Disease

A urea cycle disorder manifesting in infancy as lethargy, emesis, seizures, alterations of muscle tone, abnormal eye movements, and an elevation of serum ammonia. The disorder is caused by a reduction in the activity of hepatic mitochondrial CARBAMOYL-PHOSPHATE SYNTHASE (AMMONIA). (Menkes, Textbook of Child Neurology, 5th ed, pp50-1)

Synonyms(1)

Synonym
Carbamoyl-Phosphate Synthase I Deficiency Disease

Research

Studies (54)

TimeframeStudies, This Condition (%)All Conditions %
pre-199014 (25.93)23.3326
1990's1 (1.85)12.5806
2000's14 (25.93)18.1394
2010's16 (29.63)28.8240
2020's9 (16.67)9.53
DrugIndicatedRelationship StrengthStudiesTrials
ammonium hydroxide0medium132
carbamates0low10
carbamyl phosphate0low90
carnitine0low10
methylmalonic acid0low20
hydrogen carbonate0low10
niacin0low10
phenylacetic acid0medium11
thiamine0low20
1-anilino-8-naphthalenesulfonate0low10
diethylcarbamazine0low10
valproic acid0low10
4-phenylbutyric acid0low10
glutamine0medium81
arginine0low40
citrulline0low30
glutamic acid0low20
n-acetylglutamic acid0low30
foxes0low10
carglumic acid0medium31
aceglutamide0low10
retinol0low30
sodium benzoate0medium21
3-methylglutaconic acid0low10
alpha-chymotrypsin0low10
vitamin k semiquinone radical0low30
ascorbic acid0low10
exudates0low10
folic acid0low20
eye0low10
trypsinogen0low10

Protein Targets (354)

ProteinPotency MeasurementsInhibition MeasurementsActivation MeasurementsDrugs
Chain B, pheromone binding protein0011
Chain A, pheromone binding protein0011
Chain A, JmjC domain-containing histone demethylation protein 3A3003
Chain A, RNA-directed RNA polymerase NS50101
acid sphingomyelinase2002
thioredoxin reductase6006
USP1 protein, partial4004
TDP1 protein4004
vitamin D3 receptor isoform VDRA3003
importin subunit beta-1 isoform 12002
flap endonuclease 13003
serine/threonine-protein kinase PLK11001
snurportin-12002
peptidyl-prolyl cis-trans isomerase NIMA-interacting 13003
GTP-binding nuclear protein Ran isoform 12002
DNA polymerase eta isoform 11001
DNA polymerase iota isoform a (long)5005
urokinase-type plasminogen activator precursor1001
plasminogen precursor1001
urokinase plasminogen activator surface receptor precursor1001
geminin6006
DNA polymerase kappa isoform 11001
fibroblast growth factor 22 isoform 1 precursor0001
Mitogen-activated protein kinase 130101
Beta-lactamase0101
Transthyretin0011
Fatty acid-binding protein, intestinal0112
Fatty acid-binding protein, adipocyte0112
Cyclin-A20101
Cannabinoid receptor 10011
Cyclin-dependent kinase 20112
Choline O-acetyltransferase0101
Mitogen-activated protein kinase 120101
Guanine nucleotide-binding protein G2002
Fatty acid-binding protein 50011
Fatty acid-binding protein 50011
Mitogen-activated protein kinase 110101
Mitogen-activated protein kinase 140101
glp-1 receptor, partial4004
Chain A, MAJOR APURINIC/APYRIMIDINIC ENDONUCLEASE4004
Chain A, AROMATIC AMINO ACID AMINOTRANSFERASE0011
Chain B, AROMATIC AMINO ACID AMINOTRANSFERASE0011
Chain A, AROMATIC AMINO ACID AMINOTRANSFERASE0011
Chain B, AROMATIC AMINO ACID AMINOTRANSFERASE0011
Chain A, AROMATIC AMINO ACID AMINOTRANSFERASE0011
Chain B, AROMATIC AMINO ACID AMINOTRANSFERASE0011
Chain A, AROMATIC AMINO ACID AMINOTRANSFERASE0011
Chain B, AROMATIC AMINO ACID AMINOTRANSFERASE0011
Chain A, AROMATIC AMINO ACID AMINOTRANSFERASE0011
Chain B, AROMATIC AMINO ACID AMINOTRANSFERASE0011
Chain A, AROMATIC AMINO ACID AMINOTRANSFERASE0011
Chain B, AROMATIC AMINO ACID AMINOTRANSFERASE0011
Chain A, AROMATIC AMINO ACID AMINOTRANSFERASE0011
Chain B, AROMATIC AMINO ACID AMINOTRANSFERASE0011
Chain A, AROMATIC AMINO ACID AMINOTRANSFERASE0011
Chain B, AROMATIC AMINO ACID AMINOTRANSFERASE0011
Chain A, AROMATIC AMINO ACID AMINOTRANSFERASE0011
Chain B, AROMATIC AMINO ACID AMINOTRANSFERASE0011
mitogen-activated protein kinase 12002
survival motor neuron protein isoform d1001
Histone deacetylase 30404
Histone deacetylase 40404
Histone deacetylase 10404
Histone deacetylase 70404
Histone deacetylase 20404
Polyamine deacetylase HDAC100303
Histone deacetylase 11 0303
Histone deacetylase 80404
NAD-dependent protein deacylase sirtuin-5, mitochondrial0202
Histone deacetylase 60404
Histone deacetylase 90404
Histone deacetylase 50404
nuclear receptor subfamily 1, group I, member 35005
thyroid stimulating hormone receptor3003
Chain E, LYSINE, ARGININE, ORNITHINE-BINDING PROTEIN0011
Chain E, LYSINE, ARGININE, ORNITHINE-BINDING PROTEIN0011
Chain E, LYSINE, ARGININE, ORNITHINE-BINDING PROTEIN0011
phosphopantetheinyl transferase3003
NFKB1 protein, partial1001
GLS protein3003
thyroid stimulating hormone receptor3003
alpha-galactosidase2002
euchromatic histone-lysine N-methyltransferase 26006
cytochrome P450 2C19 precursor1001
chromobox protein homolog 14004
muscarinic acetylcholine receptor M11001
lethal factor (plasmid)3003
Cytochrome P450 3A40001
Nitric oxide synthase, endothelial0002
Nitric oxide synthase, brain0102
Nitric oxide synthase, brain 0102
Nitric oxide synthase, inducible0001
Nitric oxide synthase, inducible0013
Cationic amino acid transporter 30101
ATP-dependent phosphofructokinase3003
Chain A, Hyaluronidase, phage associated0101
acetylcholinesterase2002
RAR-related orphan receptor gamma4004
GLI family zinc finger 34004
AR protein6006
thioredoxin glutathione reductase2002
cytochrome P450 family 3 subfamily A polypeptide 43003
glucocorticoid receptor [Homo sapiens]3003
retinoic acid nuclear receptor alpha variant 15005
estrogen-related nuclear receptor alpha6006
estrogen nuclear receptor alpha8008
vitamin D (1,25- dihydroxyvitamin D3) receptor3003
IDH11001
nuclear factor erythroid 2-related factor 2 isoform 22002
thyroid hormone receptor beta isoform 23003
nuclear factor erythroid 2-related factor 2 isoform 15005
lethal(3)malignant brain tumor-like protein 1 isoform I1001
lamin isoform A-delta102002
Polyphenol oxidase 20202
Pancreatic alpha-amylase0202
Albumin0101
Urease0101
Prolyl 4-hydroxylase subunit alpha-10001
Tyrosinase0101
Alpha-2B adrenergic receptor0011
Spike glycoprotein1001
Hyaluronate lyase0101
Prolyl hydroxylase EGLN20001
Egl nine homolog 10001
Prolyl hydroxylase EGLN30001
Hypoxia-inducible factor 1-alpha inhibitor0001
Solute carrier family 23 member 10101
Carbonic anhydrase 40303
GALC protein1001
Solute carrier family 22 member 50001
Solute carrier family 22 member 50001
Bile salt export pump0404
Solute carrier family 22 member 160001
Solute carrier family 22 member 210001
Solute carrier family 22 member 50001
N(G),N(G)-dimethylarginine dimethylaminohydrolase 10101
General amino-acid permease GAP10001
Chain A, TYROSYL-DNA PHOSPHODIESTERASE3003
Chain A, Dihydrofolate reductase0011
Chain A, Putative fructose-1,6-bisphosphate aldolase1001
Chain A, HADH2 protein1001
Chain B, HADH2 protein1001
Chain A, 2-oxoglutarate Oxygenase1001
Chain A, Ferritin light chain2002
aldehyde dehydrogenase 1 family, member A14004
retinoid X nuclear receptor alpha3003
glucocerebrosidase1001
activating transcription factor 61001
lysosomal alpha-glucosidase preproprotein2002
15-hydroxyprostaglandin dehydrogenase [NAD(+)] isoform 11001
DNA polymerase beta1001
Multidrug resistance-associated protein 40001
Cellular tumor antigen p534004
Thymidylate synthase0202
Thymidylate synthase0101
Dihydrofolate reductase0011
Aldo-keto reductase family 1 member B10303
Alpha-synuclein1102
Folylpolyglutamate synthase, mitochondrial0001
Solute carrier organic anion transporter family member 1A30101
Folylpolyglutamate synthase, mitochondrial0001
Multidrug resistance associated protein0001
Chain A, GLUTAMATE RECEPTOR SUBUNIT 20101
Chain A, Glutamate Receptor Subunit 20101
Chain B, Glutamate Receptor Subunit 20101
Chain A, Slr1257 protein0011
Chain A, Glucosamine--fructose-6-phosphate aminotransferase [isomerizing]0101
regulator of G-protein signaling 41001
beta-2 adrenergic receptor1001
Metabotropic glutamate receptor 80202
Metabotropic glutamate receptor 60113
Glutamate receptor ionotropic, NMDA 2D0101
Excitatory amino acid transporter 40101
Glutamate receptor ionotropic, NMDA 3B0101
Glutathione reductase, mitochondrial0202
Bifunctional aspartokinase/homoserine dehydrogenase 10101
Prothrombin0011
Carbonic anhydrase 10305
Carbonic anhydrase 20305
Integrin beta-30011
Integrin alpha-IIb0011
ATP-citrate synthase 0101
Glutamate receptor 10213
Glutamate receptor 20213
Glutamate receptor 30213
Glutamate receptor 40213
Glutamate receptor ionotropic, kainate 10213
Metabotropic glutamate receptor 10112
Metabotropic glutamate receptor 20011
Metabotropic glutamate receptor 30011
Metabotropic glutamate receptor 40112
Metabotropic glutamate receptor 50011
Metabotropic glutamate receptor 60011
Metabotropic glutamate receptor 70011
Glutamate receptor ionotropic, NMDA 1 0213
Glutamate receptor ionotropic, kainate 10112
Metabotropic glutamate receptor 50113
Glutamate receptor ionotropic, kainate 20213
Glutamate receptor 10213
Glutamate receptor 20213
Glutamate receptor 30112
Glutamate receptor ionotropic, kainate 30202
Excitatory amino acid transporter 10203
Excitatory amino acid transporter 20203
Excitatory amino acid transporter 30203
Metabotropic glutamate receptor 80011
Glutamate receptor 40213
Excitatory amino acid transporter 3 0001
Glutamate racemase0001
Metabotropic glutamate receptor 80112
Fatty-acid amide hydrolase 10101
Glutamate receptor ionotropic, NMDA 2A 0213
Glutamate receptor ionotropic, NMDA 2B0213
Glutamate receptor ionotropic, NMDA 2C0213
Glutamate receptor ionotropic, kainate 40202
Glutamate carboxypeptidase 20101
Glutamate receptor ionotropic, NMDA 10101
Glutamate receptor ionotropic, NMDA 2A0101
Glutamate receptor ionotropic, kainate 20112
Glutamate receptor ionotropic, kainate 30101
Glutamate receptor ionotropic, NMDA 2B0101
Metabotropic glutamate receptor 10113
Metabotropic glutamate receptor 20113
Metabotropic glutamate receptor 70113
Metabotropic glutamate receptor 30113
Metabotropic glutamate receptor 40113
Glutamate receptor ionotropic, NMDA 2C0101
Glutamate receptor ionotropic, kainate 50101
Carbonic anhydrase-like protein, putative0002
Glutamate receptor ionotropic, NMDA 2D0213
Glutamate receptor ionotropic, kainate 50202
Glutamate racemase0001
Prolyl 4-hydroxylase0101
Glutamate receptor ionotropic, NMDA 3A0101
Glutamate receptor ionotropic, NMDA 3B0213
Alpha-ketoglutarate-dependent dioxygenase FTO0101
Glutamate receptor ionotropic, NMDA 3A0213
Chain A, Glutamine Binding Protein0011
15-lipoxygenase, partial2002
arylsulfatase A1001
Bloom syndrome protein isoform 11001
peripheral myelin protein 22 isoform 11001
histone-lysine N-methyltransferase 2A isoform 2 precursor2002
Neutral amino acid transporter A0101
Asc-type amino acid transporter 10101
Neutral amino acid transporter B(0)0101
Amino acid transporter0101
Carbonic anhydrase0101
Carbonic anhydrase 150101
Chain A, Beta-lactamase2002
tumor susceptibility gene 101 protein1001
Serine racemase0101
Olfactory receptor 51E20022
Lysine-specific demethylase 4C0101
bromodomain adjacent to zinc finger domain 2B1001
thyrotropin-releasing hormone receptor1001
nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (p105), isoform CRA_a1001
v-jun sarcoma virus 17 oncogene homolog (avian)2002
Amyloid-beta precursor protein0202
Neuronal acetylcholine receptor subunit alpha-41001
Cholesteryl ester transfer protein0101
Cytochrome P450 2C9 0112
Neuronal acetylcholine receptor subunit beta-21001
D-amino-acid oxidase0101
Xanthine dehydrogenase/oxidase0101
Hydroxycarboxylic acid receptor 30011
Nicotinamidase0101
Hydroxycarboxylic acid receptor 20011
Hydroxycarboxylic acid receptor 20213
Multidrug and toxin extrusion protein 10101
D-aspartate oxidase0101
Hydroxycarboxylic acid receptor 20112
Olfactory receptor class A-like protein 10011
cytochrome P450 2D61001
peroxisome proliferator activated receptor gamma3003
Tyrosine-protein kinase Lck0011
Prolyl 4-hydroxylase subunit alpha-10101
Chain A, PLASMA RETINOL-BINDING PROTEIN PRECURSOR0011
Chain A, Cruzipain1001
interleukin 81001
pregnane X receptor2002
SMAD family member 21001
SMAD family member 31001
Microtubule-associated protein tau1001
estrogen receptor 2 (ER beta)1001
pregnane X nuclear receptor2002
peroxisome proliferator-activated receptor delta2002
cytochrome P450, family 19, subfamily A, polypeptide 1, isoform CRA_a2002
parathyroid hormone/parathyroid hormone-related peptide receptor precursor1001
potassium voltage-gated channel subfamily H member 2 isoform d2002
heat shock protein beta-11001
ubiquitin carboxyl-terminal hydrolase 2 isoform a1001
nuclear receptor ROR-gamma isoform 11001
peripheral myelin protein 222002
cytochrome P450 3A4 isoform 11001
Gamma-aminobutyric acid receptor subunit pi1001
Retinol-binding protein 40011
Beta-lactoglobulin0011
Gamma-aminobutyric acid receptor subunit beta-11001
Gamma-aminobutyric acid receptor subunit delta1001
Gamma-aminobutyric acid receptor subunit gamma-21001
Gamma-aminobutyric acid receptor subunit alpha-51001
Gamma-aminobutyric acid receptor subunit alpha-31001
Gamma-aminobutyric acid receptor subunit gamma-11001
Gamma-aminobutyric acid receptor subunit alpha-21001
Gamma-aminobutyric acid receptor subunit alpha-41001
Gamma-aminobutyric acid receptor subunit gamma-31001
Gamma-aminobutyric acid receptor subunit alpha-61001
Nuclear receptor ROR-gamma2002
Gamma-aminobutyric acid receptor subunit alpha-11001
Gamma-aminobutyric acid receptor subunit beta-31001
Gamma-aminobutyric acid receptor subunit beta-21001
Disintegrin and metalloproteinase domain-containing protein 171001
GABA theta subunit1001
Gamma-aminobutyric acid receptor subunit epsilon1001
Carbonic anhydrase 5A, mitochondrial0101
Carbonic anhydrase 90101
Carbonic anhydrase0101
Chain A, ykoF0011
Chain B, ykoF0011
Chain A, ThiT0011
Thiamine transporter ThiT0011
Solute carrier family 22 member 1 0102
Carbonic anhydrase 60101
Transketolase0011
Thiamine-binding periplasmic protein0011
Solute carrier family 22 member 10101
Solute carrier family 22 member 20101
caspase 7, apoptosis-related cysteine protease1001
caspase-31001
Histone H2A.x1001
Rap guanine nucleotide exchange factor 32002
Urease subunit alpha0101
Urease subunit beta0101
Luciferase1001
farnesoid X nuclear receptor1001
thyroid hormone receptor beta isoform a1001
Cocaine esterase0101
UDP-glucuronosyltransferase 1A90001
Bile salt export pump0101
Aldo-keto reductase family 1 member B10101
Cytochrome P450 2A60101
Tissue factor0101
Aldo-keto reductase family 1 member A10101
UDP-glucuronosyltransferase 2B70102
UDP-glucuronosyltransferase 1-60001
Liver carboxylesterase 10101
Aldo-keto reductase family 1 member A10101
Aldo-keto reductase family 1 member A10101
Aldo-keto reductase family 1 member B70101
Sigma non-opioid intracellular receptor 10101
ATPase family AAA domain-containing protein 51001
Ataxin-21001
histone acetyltransferase KAT2A isoform 11001
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]