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Table 4 Frequency of clinical features of the SymX and AsymX patients are summarized in Table 4

From: Outcomes of mitochondrial long chain fatty acid oxidation and carnitine defects from a single center metabolic genetics clinic

Features

Abnormal clinical, biochemical and organ involvement

SymX group

(n = 14)

AsymX group

(NBS or asymptomatic with positive family history

(n = 21)

Statistical analysis (Fisher’s Exact Test)

Clinical features

Seizure

14.3%

(n = 2)

0%

0.1529

Myalgia

35.7%

(n = 5)

9.5%

(n = 2)

0.0897

Fatigue

14.3%

(n = 2)

0%

0.1529

Lethargy

14.3%

(n = 2)

4.8%

(n = 1)

0.5508

Hepatomegaly

14.3%

(n = 2)

0%

0.1529

Hypotonia

7.1%

(n = 1)

4.8%

(n = 1)

1

Headache

0%

0%

1

Peripheral neuropathy

7.1%

(n = 1)

0%

0.4000

Retinopathy/maculopathy

7.1%

(n = 1)

4.8%

(n = 1)

1

Investigations

Rhabdomyolysis

50%

(n = 7)

9.5%

(n = 2)

0.0153*

Lactic acidemia

14.3%

(n = 2)

0%

0.1529

Myopathy

14.3%

(n = 2)

0%

0.1529

Cardiac arrhythmia

7.1%

(n = 1)

0%

0.4000

Dilated cardiomyopathy

7.1%

(n = 1)

0%

0.4000

Acute tubular necrosis (acute kidney insufficiency)

14.3%

(n = 2)

0%

0.1529

Hypoglycemia

71.4%

(n = 10)

4.8%

(n = 1)

5.126 × 10–5*

Myoglobinuria

21.4%

(n = 3)

0%

0.0556

Hospital admissionsa

CTD

No patients in this group with CTD

0%

(n = 0 out of 6)

1

 

CPT-I deficiency

40%

(n = 2 out of 5)

0%

(n = 0 out of 8)

0.1282

 

CACT deficiency

50%

(n = 1 out of 2)

100%

(n = 1 out of 1)

1

 

LCHAD deficiency

100%

(n = 1 out of 1)

100%

(n = 3 out of 3)

1

 

VLCAD deficiency

100%

(n = 2 out of 2)

100%

(n = 3 out of 3)

1

Treatmenta

Carnitine

14.3%

(n = 2 out of 14)

28.6%

(n = 6 out of 21)

0.4307

 

Long-chain fat restriction

50%

(n = 7 out of 14)

28.6%

(n = 6 out of 21)

0.2882

  1. CACT carnitine acylcarnitine translocase; CPT-I carnitine palmitoyltransferase I; CPT-II carnitine palmitoyltransferase II; CTD carnitine transporter defect; LCHAD long-chain 3-hydroxyacyl-CoA dehydrogenase; MAD multiple acyl-CoA dehydrogenase; VLCAD very long-chain acyl-CoA dehydrogenase
  2. *Significant p-value (< 0.05)
  3. aValues are reported as averages. Long-chain fat restriction and MCT supplementation indicate percentage of daily intake