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Table 1 Main clinical findings

From: Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

 

Number

n available

Percent

Prenatal findings

 Cardiomegaly

1

60

2

 Rhythm abnormalities

2

60

3

 Decreased child movements

1

60

2

 Oligohydramnios

4

60

7

 Intrauterine growth failure

6

60

10

Neonatal course

 Lactic acidosis

21

63

33

 Cardiomyopathy

15

63

24

 Rhythm abnormalities

4

54

7

 Respiratory failure necessitating artificial ventilation

6

54

11

 Severe liver dysfunction/failure

2

54

4

 Severe renal dysfuntion/failure

2

54

4

Most frequent clinical findings

 Cardiomyopathy at presentation/during course

44/56

66/66

67/85

 Muscular weakness at presentation/during course

21/37

48/49

44/75

 Exercise intolerance at presentation/during course

21/34

49/47

43/72

Neurological findings

 Severe intellectual disability (clinical impression)

1

51

2

 Mild intellectual disability (clinical impression)

14

48

29

 Severe developmental delay (clinical impression)

4

52

8

 Mild developmental delay (clinical impression)

23

51

45

 Optic atrophy, retinits pigmentosa

0

70

0

Neuroradiological findings

 MRI: basal ganglia alterations

4

24

17

 MRI: leukoencephalopathy

5

21

24

 MRI: global brain atrophy

2

20

10

 MRI: isolated cerebellar atrophy

1

20

5

 MRS: lactate peak (any location)

2

16

13

Activities of daily living

 Age adequate behaviour

27

39

69

 Attending/finished regular school

26

41

63

 Able to sit independently

34

42

81

 Able to walk independently

33

41

80

 Able to eat and drink independently

33

41

80

 Able to perform personal hygiene independently

30

41

73

 Able to communicate with words/sentences

34/31

43/42

79/74