Figures & data
Figure 1 Putative mechanisms underlying hyperammonemia encephalopathy and brain edema.
Figure 2 Diagnostic algorithm facing hyperammonemia
Note: Adapted from Haberle J, Boddaert N, Burlina A, et al. Suggested guidelines for the diagnosis and management of urea cycle disorders. Orphanet J Rare Dis. 2012;7:32.Citation27
Abbreviations: AR1D, arginase 1 deficiency; ASLD, arginosuccinate lyase deficiency; ASSD, arginosuccinate synthetase deficiency; CPS1-D, carbamoylphosphate synthetase 1 deficiency; NAGS-D, N-acetylglutamate synthetase deficiency; OTCD, ornithine transcarbamylase deficiency.
Abbreviations: AR1D, arginase 1 deficiency; ASLD, arginosuccinate lyase deficiency; ASSD, arginosuccinate synthetase deficiency; CPS1-D, carbamoylphosphate synthetase 1 deficiency; NAGS-D, N-acetylglutamate synthetase deficiency; OTCD, ornithine transcarbamylase deficiency.
Table 1 Comparison of 3 large studies on etiologies of acute liver failure in children
Figure 3 Urea cycle and therapies for hyperammonemia.
Notes: Each number corresponds to a urea cycle deficiency disease: 1 = N-acetylglutamate synthase; 2 = carbamoylphosphate synthetase 1; 3 = ornithine transcarbamylase; 4 = arginosuccinate synthetase; 5 = arginosuccinate lyase; 6 = arginase deficiency.
Abbreviation: CoA, coenzyme A.
Abbreviation: CoA, coenzyme A.
Figure 4 Suggested algorithm for management of hyperammonemia symptomatic patients according to Guideline Development Group – Grade of recommendation C–D.
Source: Adapted from Haberle J, Boddaert N, Burlina A, et al. Suggested guidelines for the diagnosis and management of urea cycle disorders. Orphanet J Rare Dis. 2012;7:32.Citation27
Abbreviations: CPS1D, carbamoylphosphate synthetase 1 deficiency; IV, intravenous; NAGSD, N-acetylglutamate synthetase deficiency; OTCD, ornithine transcarbamylase deficiency; TCD, transcranial Doppler; UCD, urea cycle defect.
