Table 1.
Characteristics of study patients with symptomatic isovaleric acidemia.
| ID | Age at study (y) | Sex | Ethnicity | Age at diagnosis | Frequency of catabolic episodesb | Medical long-term treatmentc | Leucine-free amino acid supplementationd | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 | ||
| 11a | 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 | ||
| 15a | 16.5 | F | TR | 2.4 y | 1 | 1 | 0 | X | - | ||
| 16 | 19.0 | F | IT | 1 w | 1 | 5 | 0 | X | During infancy | ||
| 17a | 20.0 | M | TR | 5.3 y | 0 | 5 | 0 | X | - | ||
| 18a | 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 | - | ||
| 21a | 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.