Clinical and neurocognitive outcome in symptomatic isovaleric acidemia

Table 1 Characteristics of study patients with symptomatic isovaleric acidemia.

ID	Age at study (y)	Sex	Ethnicity	Age at diagnosis	Frequency of catabolic episodes^b			Medical long-term treatment^c			Leucine-free amino acid supplementation^d
					SE	MO	IM	C	C+G	none
1	2.2	M	DE	1 w	0	1	0		X		-
2	3.8	M	DE	1.6 y	0	1	1		X		X
3	5.3	F	TR	1 w	0	5	0		X		-
4	6.1	F	DE	3.7 y	0	2	2	X			-
5	6.5	F	DE	1 w	1	2	0	X			X
6	7.1	F	DE	1 w	1	5	3		X		X
7	7.5	M	DE	1 w	1	0	1		X		-
8	8.4	M	TR	6.3 y	1	1	2		X		-
9	10.7	F	TR	1 w	1	5	2	X			X
10	10.9	F	TR	1 w	2	8	3	X			X
11^a	11.5	F	GR	4.5 y	0	1	0		X		-
12	11.6	M	DE	2 w	1	2	0		X		Until age 5 y
13	14.2	M	DE	2.4 y	2	0	0		X		-
14	15.4	M	DE	5 w	0	2	2	X			Until age 15 y
15^a	16.5	F	TR	2.4 y	1	1	0	X			-
16	19.0	F	IT	1 w	1	5	0	X			During infancy
17^a	20.0	M	TR	5.3 y	0	5	0	X			-
18^a	20.0	F	TR	3.7 y	0	1	4	NA	NA	NA	-
19	24.4	M	DE	1 w	0	4	2			X	During infancy
20	25.3	F	GR	6.5 y	0	5	2			X	-
21^a	Deceased	M	DE	2 w	1	0	0	-	-	-	-

Information on the clinical presentation including age at diagnosis, number of catabolic episodes, and treatment modalities is detailed.
C = L-carnitine, F = female, G = L-glycine, DE = German, GR = Greek, IT = Italian, ID = identification number, IM = impending catabolic episode, M = male, MO = moderate catabolic episode, NA = not available, SE = severe catabolic episode, TR = Turkish, w = week(s), y = years
^a Patient not participating in study step II; information was available from questionnaire and/or medical records only.
^b Total number of catabolic episodes (as defined in the Methods section), both prior to and following the diagnosis.
^c L-carnitine intake ranged from 10 to 144 mg/kg body weight per day (median 100 mg/kg × d); L-glycine was administered in doses between 53 and 200 mg/kg body weight per day (median 112 mg/kg × d).
^d All patients were on a protein-restricted diet.

ISSN: 1750-1172