Orphanet Journal of Rare Diseases

Table 4 Acyl carnitine profiles from 14 Austrian LCHADD patients at diagnosis and at last follow-up

From: Clinical outcome, biochemical and therapeutic follow-up in 14 Austrian patients with Long-Chain 3-Hydroxy Acyl CoA Dehydrogenase Deficiency (LCHADD)

	Acylcarnitine profile at diagnosis						Acylcarnitine profile at last follow-up
Patient	Age at diagn.	TC	C0	C16OH	C18:1OH	C18OH	Age at last follow-up	TC	C0	C16OH	C18:1OH	C18OH
1	5 m	-	5	0.57	1.19	0.39	15.0 y	-	39	0.19	0.22	-
2	23 m	21	3	0.17	0.08	-	13.5 y	18	11	0.16	0.17	0.23
3	3 m	-	11	0.69	0.54	-	9.0 y	32	25	0.01	0.05	0.10
4	*15 d	45	27	0.30	0.50	0.20	7.2 y	14	9	0.37	0.44	1.00
5	15 d	42	20	0.20	0.16	0.40	6.8 y	18	10	0.11	0.49	0.54
6	*15 d	91	45	0.48	0.62	0.50	2.1 y	15	7	0.42	0.66	0.78
7	4 m	10	5	0.24	0.66	-	9.0 y	45	37	-	0.01	0.01
8	5 m	17	9	0.98	0.74	-	3.6 y	48	28	0.25	0.11	0.24
9	1 d	13	8	0.82	-	0.49	8.6 y	11	6	0.31	0.65	0.41
10	6 d	118	97	0.35	-	0.80	8.7 y	17	10	0.12	0.10	0.20
11	1 d	77	33	-	-	-	3.2 y	61	46	0.13	-	-
12	*10 d	103	56	0.25	0.37	0.34	2.2 y	-	-	0.31	0.42	0.35
13	1 d	39	18	0.21	0.27	0.30	2.1 y	20	10	0.52	0.69	0.95
14	2 d	68	32	1.1	0.41	0.69	0.3 y	22	10	0.53	0.40	0.47
Median	15 d	44	19	0.35	0.50	0.40	7.0	19	10	0.25	0.40	0.30
Range	1d-20 m	10-118	3-97	0.17-1.1	0.08-1.19	0.2-0.8	0.3-15.0	11-61	6-46	0.01-0.53	0.01-0.69	0.01-1.0

Patients grouped by mode of diagnosis (see Table 1 and 2).
Concentrations in μmol/l. (TC) total carnitine; (C0) free carnitine, (C16OH) 3-hydroxyhexadecanoylcarnitine; (C18:1OH) 3-hydroxyoctadecenoylcarnitine, (C18OH3)-hydroxyoctadecanoylcarnitine; (d) days; (m) months; (y) years.
Reference values are: TC 7-70 μmol/l, C0 6-54 μmol/l, C16OH < 0.12 μmol/l, C18:1OH < 0.16 μmol/l, C18OH < 0.13 μmol/l, (-) no values given in laboratory report.
*patients receiving carnitine therapy as prematurity treatment.

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ISSN: 1750-1172

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