Table 2 Summarized patient and D,L-3-hydroxybutyrate treatment characteristics according to outcome.

Gender

M:F = 9:7

M:F = 1:2

M:F = 0:4

Alive

12 (75%)

2 (67%)

3 (75%)

 Current age

13 years (6.5 years)

3 years (1.5 years)

13.5 years (10.5 years)

 Age at death

1.5 years (8 years)

8 months

10 days

Age at onset

3 months (8 months)

3 days (5 months)

3 months (5 years)

 Congenital anomalies

-

-

-

Positive NBS results

8 (50%)

3 (100%)

2 (50%)

Genetic analysis

14 (88%)

3 (100%)

4 (100%)

 ETFA

5^a

-

1

 ETFB

-

-

-

 ETFDH

8

3

2^b

 SLC52A3

1

-

1

Enzyme assay

6 (38%)

1 (33%)

2 (50%)

 ETF deficiency

1

-

-

 ETF-QO deficiency

4^c

1

1

 Age at start

1.5 years (6 years)

6 months (2 years)

5 months (6.5 years)

 Minimum D,L-3-HB dose (mg/kg/day)

330 (215)

200 (105)

490 (215)

 Maximum D,L-3-HB dose (mg/kg/day)

650 (400)

395 (925)

905 (330)

 Maximum number of doses/day

4 (0.3)^d

4 (1.5)

4 (0.5)^e

D,L-3-HB discontinuation

7 (44%)

2 (33%)

3 (75%)

 Age at discontinuation

6 years (17 years)

1 year (5 months)

3.5 years (13 years)

D,L-3-HB treatment duration

3 years (7.5 years)

6 months (5 months)

2 years (3.5 years)