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Table 2 Clinical signs – short and long-term organ involvement in the 14 Austrian patients with LCHADD and when firstly diagnosed in months of age

From: Clinical outcome, biochemical and therapeutic follow-up in 14 Austrian patients with Long-Chain 3-Hydroxy Acyl CoA Dehydrogenase Deficiency (LCHADD)

Patient

Current age (y)

Hepatopathy

CMP

Retinopathy

NG/PEG

Late night feeds

Patients born before introduction of LCHADD into NBS program, diagnosed clinically

1

15.3

 

156 m

108 m

PEG 24 m

X*

2

14.1

23 m

23 m

23 m

 

X

3

12.2

3 m

3 m

24 m

  

Patients born after introduction of LCHADD into NBS program (group 1-3):

Group 1: patients showing symptoms before NBS results were available:

4

7.8

     

5

7.3

  

39 m

  

6

2.7

 

9 m

   

Group 2: patients with false negative NBS results:

7

10.6

4 m

4 m

42 m

  

8

5.2

5 m

5 m

38 m

PEG 12 m

X*

Group 3: patients with positive NBS results, asymptomatic:

9

10.8

  

50 m

  

10

9.5

 

4 m

56 m

PEG 11 m

X

11

3.7

   

NG 7 m

 

12

2.8

    

X

13

2.7

neonatally

   

X

14

0.9

    

X

Summary for the 14 LCHADD patients:

  

36%

50%

57%

29%

50%

  1. Patients grouped by mode of diagnosis (see Table 1). Cardiomyopathy in Patient 1, 2, 3, 6, 7, 8, 10 is defined as fractional shortening (FS) <25 and/or ejection fraction (EF) < 50 in at least one echocardiographic screening, Patient 3 showed a prolonged QTc interval of 0.45 msec (0.42 +/- 0.02); retinopathy as described in fundoscopy reports, hepatopathy defined as a sonographic finding and elevated liver enzyme tests. Current age (referring to October 2013), (y) years; (m) months; (CMP) cardiomyopathy; (NG) nasogastric tube; (PEG) percutaneous endoscopic gastrostomy. Late evening meal, usually 22:00; X* - continuous night drip feeding via PEG.
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172