Novel variants in a patient with late-onset hyperprolinemia type II: diagnostic key for status epilepticus and lactic acidosis

Table 1 Amino acids in blood, urine and CSF

Amino acid	blood μmol/l	reference μmol/l	urine μmol/g Crea	reference μmol/g Crea	CSF mg/dl	Reference mg/dl
Alanine	685	205–508	929.0	< 700	32	19–60
Arginine	113	40–140	< 9.0	< 150	18	11–32
Asparagine	90	39–79	59.0	< 500	10	5–20
Aspartic acid	51	< 35	352.0	< 100	< 3	< 3
Cysteine			31	< 200	4	< 3
Glutamine	284	470–758	383.0	< 800	466	380–1348
Glutamine acid	420	28–92	25.	< 200	< 3	< 4
Glycine	710	120–387	19,664.0	< 2500	12	< 35
Histidine	118	30–120	781.0	< 1600	16	9–28
Hydroxyproline	–	–	1395	< 100	–	–
Isoleucine	68	35–100	19.0	< 100	< 3	< 17
Lysine	217	82–260	401.0	< 250	21	13–42
Methionine	23	6–40	56.0	< 100	< 3	< 10
Phenylalanine	120	37–115	160	< 150	7	7–21
Proline	3085	90–342	46,531	< 100	104	< 6
Serine	226	67–193	12.0	< 800	31	19–40
Threonine	152	75–194	25	< 500	36	23–57
Tryptophan	50.0	34–90	15.0	< 150	< 3	< 6
Tyrosine	86.0	21–107	386.0	< 200	13	5–17
Valine	198	116–317	77.0	< 120	9	11–40