Page last updated: 2024-10-16

carnitine and Carbamoyl-Phosphate Synthase I Deficiency Disease

carnitine has been researched along with Carbamoyl-Phosphate Synthase I Deficiency Disease in 1 studies

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)

Research Excerpts

ExcerptRelevanceReference
" Her hyperammonemia was corrected by hemodialysis, followed by sodium benzoate, L-arginine, levocarnitine and protein-free diet therapy."3.96Long-term survival of a patient with acute neonatal-onset metabolic encephalopathy with carbamoyl phosphate synthetase 1 deficiency. ( Ando, Y; Arisaka, O; Imataka, G; Ishii, J; Nitta, A; Takagi, Y; Yoshihara, S, 2020)

Research

Studies (1)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's0 (0.00)29.6817
2010's0 (0.00)24.3611
2020's1 (100.00)2.80

Authors

AuthorsStudies
Imataka, G1
Ishii, J1
Ando, Y1
Yoshihara, S2
Takagi, Y1
Nitta, A1
Arisaka, O1

Other Studies

1 other study available for carnitine and Carbamoyl-Phosphate Synthase I Deficiency Disease

ArticleYear
Long-term survival of a patient with acute neonatal-onset metabolic encephalopathy with carbamoyl phosphate synthetase 1 deficiency.
    European review for medical and pharmacological sciences, 2020, Volume: 24, Issue:19

    Topics: Arginine; Brain Diseases, Metabolic; Carbamoyl-Phosphate Synthase I Deficiency Disease; Carnitine; F

2020