Table 1.

Clinical characteristics of individuals homozygous for the ASL variant c.1153C>T

	Type of diagnosis	Age at diagnosis	Confirmation of diagnosis		ASA (umol/l), not detected normally	Citrulline (umol/l), normal <50	Arginine (umol/l), normal >10	Glutamine (umol/l), normal <800	Ammonium (umol/l), normal <100 in newborns, <50 later	ALT (U/l), normal <50
Person 1	screening	8 days	sequencing	laboratory tests at diagnosis	626	397	23	1,442	314	37
				laboratory tests at follow up	219 (75–446)	175 (84–260)	–	–	46 (10–140)	73 (22–195)
Person 2	symptomatic	10 months	enzyme activity test in erythrocytes: 0.18 μmol/h/g Hb (reference range in the laboratory 5–8 μmol/h/g Hb)	laboratory tests at diagnosis	N/A (high in urine)	149	21	896	190	621
				laboratory tests at follow up	194 (103–291)	214 (97–356)	–	–	61 (39–126)	71 (16–305)

Table presenting clinical data of the two individuals. Plasma amino acids, ammonium, and alanine aminotransferase (ALT) were analyzed in Helsinki University Hospital Laboratory HUSLAB. The reference ranges for amino acids vary according to age; the reference values presented are the rounded mean. The follow-up data from 10 recent years are presented as the mean, and in between parentheses, the lowest and the highest values.