Carbamoyl-phosphate synthetase 1 deficiency

Carbamoyl-phosphate synthetase 1 deficiency (CPS1D) is a rare and severe disorder of urea cycle metabolism most commonly characterized by either a neonatal-onset of severe hyperammonemia that occurs few days after birth and manifests with lethargy, vomiting, hypothermia, seizures, coma and death or a presentation outside the newborn period at any age with (sometimes) milder symptoms of hyperammonemia.



Input patient's signs and symptoms


Narrow down the case reports



Total: 16 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
2
(4.0%)		 12080609
 [A case of late-onset carbamoyl phosphate synthetase I deficiency, presenting periodic psychotic episodes coinciding with menstrual periods].
Wakutani Y, Nakayasu H, Takeshima T, Mori N, Kobayashi K, Endo F, Nakashima K.
Rinsho Shinkeigaku. 2001;41(11):780-5.
Aggressive behavior
CPS1
p|SUB|V|1149|G
Carbamoyl-Phosphate Synthase I Deficiency Disease Females Homo sapiens Psychotic Disorders
2
(4.0%)		 12055368
 Ammonia detoxification by continuous venovenous haemofiltration in an infant with urea cycle defect.
Chan WK, But WM, Law CW.
Hong Kong Med J. 2002;8(3):207-10.
Respiratory failure
Carbamoyl-Phosphate Synthase I Deficiency Disease Hemofiltration Homo sapiens Hyperammonemia Infant, Newborn Male Respiratory Insufficiency
2
(4.0%)		 11536261
 Carbamoyl phosphate synthetase I deficiency: molecular genetic findings and prenatal diagnosis.
Aoshima T, Kajita M, Sekido Y, Mimura S, Itakura A, Yasuda I, Saheki T, Watanabe K, Shimokata K, Niwa T.
Prenat Diagn. 2001;21(8):634-7.
Hyperammonemia
CPS1
c|SUB|C|1123|T;RS#:757451824 c|SUB|G|840|C;RS#:756648544 p|SUB|Q|375|X
Carbamoyl-Phosphate Synthase I Deficiency Disease DNA Primers Differential Diagnosis Females Glucosyltransferases Homo sapiens Infant, Newborn Male Membrane Proteins Polymerase Chain Reaction Pregnancy Pregnancy Trimester, Second Schizosaccharomyces pombe Proteins
2
(4.0%)		 9761362
 Hemodialysis catheter placement and recirculation in treatment of hyperammonemia.
Vats A, Kashtan CE, Tuchman M, Mauer M.
Pediatr Nephrol. 1998;12(7):592-5.
Hyperammonemia
Carbamoyl-Phosphate Synthase (Ammonia) Catheterization, Peripheral Child, Preschool Females Homo sapiens Muscle, Smooth, Vascular Renal Circulation Renal Dialysis
2
(4.0%)		 6851228
 A lethal neonatal variant of carbamoyl-phosphate synthetase deficiency in combination with an intermediate activity of L-ornithine: 2-oxoglutarate amino-transferase.
van der Heiden C, Beemer FA, van Dijk HA, Desplanque J, Gerards LJ.
Clin Genet. 1983;23(5):363-8.
Seizure
Amino Acid Metabolism, Inborn Errors Carbamoyl-Phosphate Synthase (Ammonia) Females Homo sapiens Infant, Newborn Ligase Liver Transaminases
2
(4.0%)		 1925287
 Aspergillosis of the CNS in a pediatric liver transplant recipient: case report and review.
Green M, Wald ER, Tzakis A, Todo S, Starzl TE.
Rev Infect Dis. 1991;13(4):653-7.
Abscess
Antifungal Agents Aspergillosis Brain Abscess Combined Modality Therapy Homo sapiens Infant Male Postoperative Complications
        

Phenotype(s) retrieved from Orphanet

    Total: 7

HPO ID Term Frequency
HP:0001250 Seizures Very frequent (99-80%)
HP:0001252 Muscular hypotonia Very frequent (99-80%)
HP:0001951 Episodic ammonia intoxication Very frequent (99-80%)
HP:0001987 Hyperammonemia Very frequent (99-80%)
HP:0002093 Respiratory insufficiency Very frequent (99-80%)
HP:0003355 Aminoaciduria Very frequent (99-80%)
HP:0005961 Hypoargininemia Very frequent (99-80%)


Phenotype(s) retrieved from case reports

    Total: 4

HPO ID Term # of case reports
HP:0001987 Hyperammonemia 7
HP:0000618 Blindness 1
HP:0000725 Psychotic episodes 1
HP:0001298 Encephalopathy 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
CPS1 carbamoyl-phosphate synthase 1 1373