Presentation and management of N-acetylglutamate synthase deficiency: a review of the literature

Table 3 Literature review of nutrition management in conjunction with carbamylglutamate treatment

Year	Refs.	Onset	Carbamyl-glutamate mg/kg/day	Protein g/kg/day	Citrulline mg/kg/day	Arginine mg/kg/day	Sodium benzoate mg/kg/day	Outcome
1985	[72] See also [3, 33, 73]	N	180–320	1.5	430^b	700^b		Deceased at 9 years
1995	[26]	N	80–100					Normal growth at 1 year
1996	[74] See also [37]	5 months	√ (4 × 200 mg/day)	3.5				Not stated
1997	[16]	20 years	60			50		Gross cerebral dysfunction; paraplegia
1998	[36]	N	100	2.5			70	Normal at 20 months
1998	[11] See also [37]	12 years	100	1.2				Normal at age 24 years
1999	[12]	4 years	100	0.9–1.0				Cognitive impairment
2002	[70]	N	150		√			Developmental delay
2003	[20]	12 years	15					Not stated
2003	[27] See also [35]	N	15–200					Normal at 13 years
2007	[30]	N	50	2.0–3.5^a				Normal at 2.5 years
2011	[75]	N	√ (200–800 mg/d)					Normal at 20 years
2013	[40]	38 years	150					Short-term memory loss
2014	[34]	N	30					Normal at 3 years
2014	[31]	N	100					Normal at 9 months
2015	[76]	N	75–100	2.0				Poor growth, mild MR, ADHD at 9 years
2016	[77]	N	200					Not stated
2016	[78]	N	100	2.0–2.5				Deceased at 4.5 months
2017	[45]	N	40					Normal at 7 months
2017	[24]	59 years	√ (2 × 600 mg/d)	0.8				Normal
2018	[13]	52 years	24					Discontinuation of symptoms
2018	[14] (Case 1)	3 years	√ (5 × 200 mg/d)	1.0				Not stated
2018	[14] (Case 2)	6 years	50	1.8				Normal growth and development
2018	[14] (Case 3)	6 years	50					Not stated
2020	[44] (Case 1)	N	50	3.5				Normal growth and development at 6 years
2020	[44] (Case 2)	N	50	3.5				Normal growth and development at 4 years
2020	[44] (Case 3)	N	50					Normal growth and development at 16 months

ISSN: 1750-1172