Table 4

Biochemical data for patients with PROSC mutations

	P1*			P2^†			P3^‡		P4
Age at sampling	11 y	12 y		8 d	6 w		5 d		NA
Pyridoxine dosage (mg/day)	300, 2 SD	300, 2 SD		24 hours after SD of 100 mg i.v.	2 weeks on 100 mg/day, 2 SD		No
PLASMA
Amino acids (µmol/L)			Ref.			Ref.		Ref.	NA
Alanine	330	416	152–508	445	549	100–439	209	195–675
Valine	244	253	142–278	131	185	60–294	134	120–560
Isoleucine	68	66	38–94	67	89	28–95	32	35–175
Leucine	126	132	76–168	168	150	45–160	82	90–290
Glycine	190	217	148–324	574	350	60–380	326	105–445
Phenylalanine	54	59	38–78	32	60	23–75	61	25–145
Proline	171	280	75–307	434	310	50–298	140	120–620
Tyrosine	64	66	40–92	58	107	20–120	76	50–210
Others metabolites							NA		NA
PA (µmol/L)	1.67		0.22–3.72		0.8 (4 y)	0.22–3.72
AASA (µmol/L)	0.1
CSF
Amino acids (µmol/L)				39 cells/mL		Ref.	NA		NA
Lactate (mmol/L)					1.33	1.1–1.8
Alanine				53.7	59	23–39.5
Valine				43.7	33.1	14.8–22.5
Isoleucine				13.8	15.1	4.6–8.6
Leucine				35.6	29.3	11.0–18.7
Glycine				12.5	11.5	3.5–9.3
Phenylalanine				22.6	13.9	7.0–13.2
Proline				NA	NA
Tyrosine				21.9	30	7.1–21.5
Homocarnosine				NA	NA
Neurotransmitters (nmol/L)						Ref.	NA		NA
HVA					918	484–1446
5-HIAA					386	302–952
3-ortho-Methyldopa					6	<310
L-Dopa					nd	<15
5-OH-Tryptophane					13	<20
5-MTHF					158	62–287
Free GABA					48^§	17–67
Total GABA					7340^§	4200–13400
URINE
AASA	0.1			NA			NA		NA
Organic acids	normal			normal			NA		NA

*Samples measured at the Department of Clinical Chemistry and Biochemistry, University Children’s Hospital Zurich.
^† Samples measured at the Division of Inherited Metabolic Diseases, University of Heidelberg.
‡Samples measured at the Department of Pediatrics, Vrije Universiteit Amsterdam.
§Samples measured at the Institute Giannina Gaslini, Genova.
Abnormal values are given in bold.
AASA, alpha-aminoadipic semialdehyde; CSF, cerebro spinal fluid; d, days; GABA, gamma-aminobutyric acid; 5-HIAA, 5-hydroxyindoleacetic acid; HVA, homovanillic acid; 5-MTHF, 5-methyltetrahydrofolate; NA, not available; PA, pipecolic acid; SD, single dosage; w, weeks; y, years.
Abnormal values are given in bold.