Table 1.

Summary of findings in reported adult cases of confirmed N-acetylglutamate synthase (NAGS) deficiency

Patient	Diagnosis/onset of symptoms; sex	Presentation	Genotype	Peak ammonia level	Outcome	References
1	Diagnosis 20 years (1.5 years onset of symptoms); male	Confusion, combative behavior	Partial NAGS deficiency. Liver biopsy: NAGS activity <50% control	>100 μmol/l	Critical illness polyneuropathy, cerebral dysfunction, and paraplegia	Hinnie et al. (1997)
2	Diagnosis 33 years (27 years onset of symptoms); female	Seizures, coma during pregnancy	L312P/T431I	4,781 μmol/l	Not indicated	Grody et al. (1994)
						Caldovic et al. (2007)
3	Diagnosis 33 years (5 years onset of symptoms); male	Post-operative combativeness, confusion, seizures	V173E/T431I	621 μmol/l	Death	Caldovic et al. (2005)
4	Diagnosis 57 years (40 years onset of symptoms); female	Intermittent staring spells, nausea, recurrent vomiting, lethargy, ataxia, migraine headaches, eventually coma	V350I/L442V	500 μmol/l	Normal intellect at 57 years	Tuchman et al. (2008)
5	Diagnosis 38 years (20 years onset of symptoms); male	Episodic confusion, nausea and vomiting	E433G/IVS6+5 G>A	434 μmol/l	Short term memory loss	Cartagena et al. (2013)
6	Diagnosis 59 years (46 years onset of symptoms); female	Confusion, coma	Exon 2 (c 603 G>C) in Lys201Asn	280 μM	Behavior and cognitive functions markedly improved