Carbamyl phosphate synthetase 1 deficiency: A destructive encephalopathy

Pediatric Neurology

Volumn 24, Issue 3, 2001, Pages 193-199

  Takeoka, Masanori ^a,b   Soman, Teesta B ^a   Shih, Vivian E ^a   Caviness Jr , Verne S ^a   Krishnamoorthy, Kalpathy S ^a  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b KEIO UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CARBAMOYL PHOSPHATE SYNTHASE;

AMMONIA BLOOD LEVEL; ARTICLE; ASTROCYTE; BIRTH WEIGHT; BRAIN ATROPHY; BRAIN DISEASE; BRAIN EDEMA; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; CONSCIOUSNESS; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; HUMAN; HYPERAMMONEMIA; MALE; NEWBORN; PATHOLOGY; PRIORITY JOURNAL; SEIZURE; UREA CYCLE;

ATROPHY; BRAIN; CARBAMOYL-PHOSPHATE SYNTHASE I DEFICIENCY DISEASE; DIAGNOSIS, DIFFERENTIAL; FEMALE; HUMANS; HYPERAMMONEMIA; INFANT; MAGNETIC RESONANCE IMAGING; TOMOGRAPHY, X-RAY COMPUTED;

EID: 0035070667     PISSN: 08878994     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0887-8994(00)00259-9     Document Type: Article

References (24)

1. A lethal neonatal variant of carbamoyl-phosphate synthetase deficiency in combination with an intermediate activity of L-ornithine; 2-oxoglutarate amino-transferase
2. Neonatal hyperammonaemia with complete absence of liver carbamyl phosphate synthetase activity
3. Metabolic stroke in carbamyl phosphate synthetase deficiency
4. Assignment of the human carbamyl phosphate synthetase I gene (CPS1) to 2q35 by fluorescence in situ hybridization
5. Carbamylphosphate synthetase deficiency in an infant with severe cerebral damage
6. The addition of aminoacids and phosphate to hemodiafiltration solutions in newborns with hyperammonemic coma
7. Blood levels of ammonia and nitrogen scavenging amino acids in patients with inherited hyperammonemia
8. Effects of hyperammonaemia on brain function
9. The neuropathology of galactosemia. A histopathological and biochemical study
10. Carbamyl phosphate synthetase-1 deficiency discovered after valproic acid-induced coma
11. CT and MRI in a girl with late-onset ornithine transcarbamylase deficiency; Case report
12. Ornithine transcarbamylase deficiency in females; An often overlooked cause of treatable encephalopathy
13. Cerebral ammonia metabolism in normal and hyperammonemic rats
14. Inhibition of brain glutamine accumulation prevents cerebral edema in hyperammonemic rats
15. Urea cycle disorders; Diagnosis, pathophysiology, and therapy
16. Alternative pathway therapy for urea cycle disorders
17. Carnitine deficiency syndromes
18. Late clinical presentation of partial carbamyl phosphate synthetase I deficiency
19. Automated tandem mass spectrometry for mass newborn screening for disorders in fatty acid, organic acid, and amino acid metabolism
20. The allopurinol load test lacks specificity for primary urea cycle defects but may indicate unrecognized mitochondrial disease
21. Molecular genetic research into carbamoyl-phosphate synthase I; Molecular defects and linkage markers