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.

Hyperammonemia

An increased concentration of ammonia in the blood.


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PMID (PMCID)
28444906
 MIXED_SAMPLE Infant, Newborn
Carbamoyl phosphate synthetase 1 deficiency diagnosed by whole exome sequencing.
Zhang G, Chen Y, Ju H, Bei F, Li J, Wang J, Sun J, Bu J.
J Clin Lab Anal. 2018;32(2):.
Carbamoyl Phosphate Synthetase 1 deficiency (CPS1D) is a rare autosomal recessive inborn metabolic disease characterized mainly by hyperammonemia.
29314318
 MIXED_SAMPLE
Two novel CPS1 mutations in a case of carbamoyl phosphate synthetase 1 deficiency causing hyperammonemia and leukodystrophy.
Chen X, Yuan L, Sun M, Liu Q, Wu Y.
J Clin Lab Anal. 2018;32(5):e22375.
Carbamoyl phosphate synthetase 1 deficiency (CPS1D) is a rare autosomal recessive disorder of the urea cycle, mostly characterized by hyperammonemia and the concomitant leukodystrophy.
29314318
 MIXED_SAMPLE
Two novel CPS1 mutations in a case of carbamoyl phosphate synthetase 1 deficiency causing hyperammonemia and leukodystrophy.
Chen X, Yuan L, Sun M, Liu Q, Wu Y.
J Clin Lab Anal. 2018;32(5):e22375.
Two novel CPS1 mutations in a case of carbamoyl phosphate synthetase 1 deficiency causing hyperammonemia and leukodystrophy.
25639153
 MALE Middle Aged
Fatal hyperammonemia and carbamoyl phosphate synthetase 1 (CPS1) deficiency following high-dose chemotherapy and autologous hematopoietic stem cell transplantation.
Laemmle A, Hahn D, Hu L, Rufenacht V, Gautschi M, Leibundgut K, Nuoffer JM, Haberle J.
Mol Genet Metab. 2015;114(3):438-44.
This study adds to the understanding of chemotherapy-induced hyperammonemia as drug-induced CPS1 deficiency is suggested.
25639153
 MALE Middle Aged
Fatal hyperammonemia and carbamoyl phosphate synthetase 1 (CPS1) deficiency following high-dose chemotherapy and autologous hematopoietic stem cell transplantation.
Laemmle A, Hahn D, Hu L, Rufenacht V, Gautschi M, Leibundgut K, Nuoffer JM, Haberle J.
Mol Genet Metab. 2015;114(3):438-44.
We therefore hypothesized that the acute onset of hyperammonemia was due to an acquired, chemotherapy-induced (posttranscriptional) CPS1 deficiency.
20004862
(3758690)
 MIXED_SAMPLE Young Adult
Diffusion tensor imaging in arginase deficiency reveals damage to corticospinal tracts.
Oldham MS, VanMeter JW, Shattuck KF, Cederbaum SD, Gropman AL.
Pediatr Neurol. 2010;42(1):49-52.
Individuals with a proximal urea cycle disorder, such as carbamoyl phosphate synthetase deficiency 1 or ornithine transcarbamylase deficiency, may present with encephalopathy resulting from hyperammonemia.
20117757
 MALE
Extrapontine myelinolysis resulting in transient cortical blindness.
Langer JE, Wilson WG, Raghavan P, Rust RS, Goodkin HP.
Pediatr Neurol. 2010;42(2):154-6.
Described here is a novel case of transient cortical blindness in association with imaging features of extrapontine myelinolysis, which occurred in a child with carbamoyl phosphate synthetase deficiency after rapid correction of hyperammonemia.
19167850
 MALE Infant
A case of carbamoyl phosphate synthetase 1 deficiency presenting symptoms at one month of age.
Ono H, Suto T, Kinoshita Y, Sakano T, Furue T, Ohta T.
Brain Dev. 2009;31(10):779-81.
Our clinical experience suggests that CPS1D could be one of the causes of hyperammonemia in early infantile cases.
19167850
 MALE Infant
A case of carbamoyl phosphate synthetase 1 deficiency presenting symptoms at one month of age.
Ono H, Suto T, Kinoshita Y, Sakano T, Furue T, Ohta T.
Brain Dev. 2009;31(10):779-81.
Carbamoyl phosphate synthetase 1 deficiency (CPS1D) is an autosomal recessive disorder of the urea cycle which causes hyperammonemia.
9761362
 FEMALE
Hemodialysis catheter placement and recirculation in treatment of hyperammonemia.
Vats A, Kashtan CE, Tuchman M, Mauer M.
Pediatr Nephrol. 1998;12(7):592-5.
A 2-year-old girl with carbamoyl phosphate synthetase deficiency underwent emergency hemodialysis (HD) for treatment of acute life-threatening hyperammonemia.