Skip to main content

Table 2 Clinical, biochemical, and genetic characteristics of patients with fatty acid oxidation disorders diagnosed by clinical signs and symptoms

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)

Long chain hydroxyacyl-CoA dehydrogenase/mitochondrial trifunctional protein deficiencies

1

2.7 years

11.3 years

Recurrent rhabdomyolysis, sensorimotor polyneuropathy, difficulty running and climbing stairs

DBS

C10OH (n.a.), C18OH (n.a.)

HADHB

c.[340A > G]

(p. [N114D])

c.[739C > T] (p.[R247C])

2

2.1 years

11.9 years

Recurrent rhabdomyolysis, sensorimotor polyneuropathy, difficulty running, positive Gowers’ sign

DBS

C10 (n.a.), C12 (n.a.), C14:1 (n.a.), C14OH (n.a.), C16OH (n.a.), C18:1OH (n.a.)

HADHB

c.[340A > G]

(p. [N114D])

c.[919A > G] (p.[N307D])

3

4.8 years

6.8 years

Recurrent rhabdomyolysis, sensorimotor polyneuropathy, difficulty running

DBS

C14OH (n.a.), C16OH (n.a.), C18OH (n.a.), C18:1OH (n.a.)

HADHB

c.[340A > G]

(p. [N114D])

c.[1148C > T] (p.[S383 L])

4

10.6 years

23.3 years

Recurrent rhabdomyolysis, sensorimotor polyneuropathy, walk with assistance

DBS

C14OH (0.156 μM; ref., 0.003–0.87), C16OH (0.228 μM; ref., 0.003–0.083), C18OH (0.072 μM; ref., 0.003–0.055)

HADHB

c.[919A > G]

(p.[N307D])

c.[1165A > G] (p.[N389D])

5

1 day

–

Severe cardiomyopathy at first day of life. Died of lactic acidosis at 4 days old

DBS

C16OH, (0.86 μM; ref., < 0.15), C18OH (0.33 μM; ref., < 0.1), C18:1OH (0.48 μM; ref., < 0.08), C14:1 (0.66 μM; ref., < 0.35), C14 (1.35 μM; ref., < 0.86), C16:1 (0.54 μM; ref., < 0.25)

HADHA

c.[1793_1974del]

(p.[H598Rfs*33])

c.[1793_1974del] (p.[H598Rfs*33])

6

5 days

–

Presented with tachypnea and metabolic acidosis at 5 days old. Died at 9 days old due to cardiomyopathy

DBS

C14 (n.a.), C14OH (n.a.), C16OH (n.a.), C18OH (n.a.), C18:1OH (n.a.)

HADHB

c.[1136A > G]

(p.[H379R])

c.[1211dup] (p.[G404 fs*2]) a

Very long chain acyl-CoA dehydrogenase deficiency

7

2 months

3.9 years

Hypertrophic cardiomyopathy, recurrent rhabdomyolysis

DBS

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

ACADVL

c.[997_998ins(T)]

(p.[A333*]) a

c.[1770_1773del] (p.[S590*]) a

Carnitine palmitoyltransferase 1A deficiency

8

33 months

6.8 years

Recurrent hepatic failure, nephromegaly, hemolytic anemia, rhabomyolysis, developmental delay

Plasma

C0 (68.86 μmol/L; ref., < 62.10),

C0/(C16 + C18) (1639)

CPT1A

c.[837_838insT]

(p.[I279*])

c.[947G > A] (p.[R316Q])

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