Skip to main content

Table 1 Characteristics of nine patients with long-chain fatty acid oxidation disorders

From: Triheptanoin in patients with long-chain fatty acid oxidation disorders: clinical experience in Italy

Patient

LC-FAOD diagnosis

Age at diagnosis (years)

Diagnosis method

Current age (years)

Current weight (kg)

Current height (cm)

Current BMI z-score

1

MTPD

0.1

NBS + clinical symptoms

7.4

24

118

1

2

MTPD

1.0

Clinical symptoms

5.0

17

112

–1.2

3

CPT2D

0.6

Clinical symptoms

18.2

66

185

–1.1

4

MTPD

0.5

Clinical symptoms

12.0

41

155

–0.6

5

CPT2D

4.0

Clinical symptoms

16.0

71

178

0.6

6

CPT2D

5.0

Clinical symptoms

8.0

25

124

0.3

7

VLCADD

2.0

Clinical symptoms

15.0

63

164

1.2

8

MTPD

0.01

NBS + clinical symptoms

9.0

32

146

–0.7

9

VLCADD

0.3

NBS

8.9

31

128

1.3

  1. BMI body mass index, CPT2D carnitine palmitoyl transferase 2 deficiency, LC-FAOD long-chain fatty acid oxidation disorders, MTPD mitochondrial trifunctional protein deficiency, NBS newborn screening, VLCADD very long-chain acyl-CoA dehydrogenase deficiency