Table 1 Diagnostic characteristics of patients included in the retrospective cohort study.

From: Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency

Patient

Sex

Age at clinical onset

Affected gene

Variant allele 1

Variant allele 2

Enzyme activity (nmol/min/mg protein)

cDNA

Protein

cDNA

Protein

1a,b(7)

F

0 days

ETFA

c.1–40G>A

 

c.1–40G>A

  

2

M

0 days

ETFA

c.797C>T

p.T266M

c.797C>T

p.T266M

ETF:<0.01 (<1% of C)

3c

F

1 day

ETFA

c.797C>T

p.T266M

c.797C>T

p.T266M

 

4ab,c(17,18)

M

1 day

ETFA

c.370G>A

p.A124T

c.370G>A

p.A124T

 

5

F

1 day

ETFA

c.200T>C

p.L67P

c.854A>T

p.Q285L

 

6a(17,18)

M

7 days

ETFAe

c.365G>A

p.R122K

c.809–811del

p.V270del

 

7

F

1 day

ETFDH

c.896T>C

p.L299S

c.1842C>A

p.Y614X

 

8b,c

F

3 days

ETFDH

c.1141G>C

p.G381R

c.1141G>C

p.G381R

ETF-QO: 0.05 (C: 0.22 ± 0.09)

9

F

1 month

ETFDH

c.34G>C

p.A12P

c.1234G>T

p.E412X

 

10

M

2 months

ETFDH

c.1001T>C

p.L334P

c.1074G>C

p.R358S

ETF-QO: 0.71 (C: 0.8–2.4)

11c

M

4 months

ETFDH

c.820G>T

p.G274X

c.1601C>T

p.P534L

ETF: 1.23 (C: 0.79–2.1) ETF-QO: 0.96 (C: 0.8–2.4)

12a(17,18)

M

5 months

ETFDH

c.858G>A

p.W286X

c.1099A>G

p.N367D

 

13a(15)

F

6 months

ETFDH

c.51dupT

p.A18Cfs

c.940G>A

p.E314K

ETF-QO: 0.44 (C 0.8–2.4)

14

M

10 months

ETFDH

c.463A>G

p.R155G

c.463A>G

p.R155G

 

15

F

1 year 3 months

ETFDH

c.665A>C

p.Q222P

c.665A>C

p.Q222P

ETF-QO: 0.07 (C: 0.31 ± 0.19)f

16b,d

F

1 year 8 months

ETFDH

c.1693G>C

p.V565L

c.1693G>C

p.V565L

 

17a,b(8)

M

2 years 7 months

ETFDH

c.1106G>C

p.G369A

c.1106G>C

p.G369A

 

18

M

25 years 11 months

ETFDH

c.1367C>T

p.P456L

c.1367C>T

p.P456L

 

19

F

19 years

ETFDH

c.1774T>C

p.C592R

  

ETF: 1.82 (C: 0.79–2.1) ETF-QO: 0.21 (C: 0.8–2.4)

20a,c(17,18)

F

7 days

NF

     

21c

F

1 month

      

22a(10)

M

5 months

SLC52A3

c.639C>G

p.Y213X

c.678–680del

p.L227del

ETF: 1.27 (C: 1.25 ± 0.32) ETF-QO: 0.06 (C: 0.22 ± 0.09)

23a(11)

F

6 months

SLC52A3

c.49T>C

p.W17R

c.639C>G

p.Y213X

ETF: 1.11 (C: 1.25 ± 0.32) ETF-QO: 0.17 (C: 0.22 ± 0.09)

  1. C control, cDNA complementary DNA, NF no variant found.
  2. aPatient has been published previously in relation to D,L-3-HB treatment; see corresponding reference.
  3. bConsanguinity.
  4. cDeceased.
  5. dDiagnosed prenatally due to family history.
  6. eDNA analysis also demonstrated compound heterozygous variants in ETFB (c.217–4G>T and c.438+20C>T), classified as variant of uncertain significance and likely benign, respectively.
  7. fAnalysis only performed in sister.
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