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Table 1 Clinical, biochemical, and genetic characteristics of patients with fatty acid oxidation disorders diagnosed by newborn screening

From: Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening

No

Age at diagnosis

Age at last follow-up

Phenotype

Acylcarnitine

Gene

Allele 1

Allele 2

Sample

Elevated acylcarnitine (value)

Very long chain acyl-CoA dehydrogenase deficiency

1

39 days

3.7 years

recurrent rhabdomyolysis and hypertrophic cardiomyopathy after 7 months old

DBS

C14 (2.504 μM; ref., 0.006–0.166), C14:1 (1.097 μM; ref., 0.006–0.166)

ACADVL

c.[104_105ins10] (p.[P35fs*27]) a

c.[104_105ins5] (p.[P35fs*25]) a

2

33 days

5.8 years

recurrent rhabdomyolysis after 11 months

DBS

C14:1 (n.a.), C14 (n.a.), C14:2 (n.a.)

ACADVL

c.[1349G > A] (p.[R450H])

c.[1349G > A] (p.[R450H])

3

25 days

10 months

hypertrophic cardiomyopathy

DBS

C14:2 (0.581 μM; ref., 0.006–0.166), C14:1 (1.391 μM; ref., 0.034–0.599)

ACADVL

c.[103_112dup] (p.[R38P*26]) a

c.[1532G > A] (p.[R511Q])

4

49 days

3.3 years

1 episode of rhabdomyolysis

DBS

C14:1 (6.62 μM; ref., <  0.85)

ACADVL

c.[996_997ins(T)] (p.[A333C*26]) a

c.[552C > G] (p.[I184M]) a

5

48 days

2.0 years

asymptomatic

Plasma

C14 (0.184 μmol/L; ref., <  0.15), C14:2 (0.215 μmol/L; ref., <  0.13)

ACADVL

c.[1349G > A] (p.[R450H])

?

Medium chain acyl-CoA dehydrogenase deficiency

6

16 days

4.5 years

asymptomatic

DBS

C8 (0.68 μM; ref., <  0.31)

ACADM

c.[617G > A] (p.[R206H])

c.[1189 T > A] (p.[Y397N])

7

36 days

3.5 years

asymptomatic

DBS

C6 (n.a.), C8 (n.a.), C10:1 (n.a.), C10 (n.a.)

ACADM

c.[1085G > A] (p.[G362E])

c.[1189 T > A] (p.[Y397N])

8

51 days

6.9 years

asymptomatic

DBS

C6 (0.46 μM; ref., <  0.22), C8 (1.66 μM; ref., < 0.35)

ACADM

c.[449_452del] (p.[Y150Rfs*4])

c.[1189 T > A] (p.[Y397N])

9

56 days

1.4 years

asymptomatic

DBS

C8 (2.98 μM; ref., <  0.37), C10:1 (0.58 μM; ref., <  0.40)

ACADM

c.[449_452del] (p.[Y150Rfs*4])

c.[1085G > A] (p.[G362E])

10

153 days

1.4 years

asymptomatic

Plasma

C6 (0.868 μmol/L; ref., < 0.18), C8 (5.067 μmol/L; ref., < 0.27), C10:1 (1.387 μmol/L; ref., < 0.46)

ACADM

c.[1189 T > A] (p.[Y397N])

?

Primary carnitine deficiency

11

53 days

3.2 years

mild CK elevation, normal development

Plasma

C0 (4.1 μmol/L; ref., 12–46), Total carnitine (6.1 μmol/L; ref., 19–59)

SLC22A5

c.[396G > A] (p.[W132*])

c.[1400C > G] (p.[S467C])

Carnitine palmitoyltransferase 1A deficiency

12

41 days

5 months

normal development

Plasma

C0 (80.839 μmol/L; ref., < 62.10), C0/(C16 + C18) (123.5)

CPT1A

c.[748G > T] (p.V250 L) a

c.[1015C > T] (p.[R399*]) a

Long chain hydroxyacyl-CoA dehydrogenase/mitochondrial trifunctional protein deficiencies

13

26 days

 

Family history of sibling who died of lactic acidemia during the neonatal period. Died at age 49

DBS

C16OH (n.a.), C16OH/C16 (n.a.), C18:1OH (n.a.), C14 (n.a.), C14OH (n.a.)

HADHA

c.[1689 + 2 T > G] (deletion of exon 16)

c.[1689 + 2 T > G] (deletion of exon 16)

Short chain acyl-CoA dehydrogenase deficiency

14

141 days

5 months

asymptomatic

Plasma

C4 (4.51 μmol/L; ref., < 1.06)

ACADS

c.[164C > T] (p.[P55L])

c.[1041A > G] (p.[E344G])

  1. aindicates novel mutations. DBS dried blood spot samples, n.a. not available