Table 4.
Clinical presentation of patients with Carbohydrate disorders and Fatty acid oxidation disorders.
| Type of disorder No. (%) | Main features | Outcomes alive/died | Age at onset median (rang) | Age at diagnosis median (range) |
|
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| Carbohydrate 16 (14.9) | ||||
|
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| -Galactosemia 4 (25) | Jaundice, hepatomegaly, failure to thrive | 2 alive | 4w (3–8) | 12w (8–12) |
|
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| -GSD Ia 7 (43,7) | Hypoglycemia, convulsion hepatomegaly | 5 alive | 8w (3–32) | 4m (2–48) |
|
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| -GSD XI 4 (25) | vit.D resistant rickets | alive, 3 bone deformity | 4.5m (3–12) | 10.5m (6–12) |
|
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| -GSD III 1(6.2) | Hepatomegaly, hypoglycemia | Alive healthy | 7m | 12m |
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| FOD 4 (3.7) | ||||
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| -CPT I 1 (25) | Coma, hypoglycemia, hepatomegaly | Alive, well | 9m | 24m |
|
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| -VLCAD 2 (50) | Hepatomegaly, cardiomyopathy | Died | 5.5m (5–6) | 8.5m (8–9) |
|
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| -GA II 1 (25) | Hypotonia, hypoglycemia, dysmorphic | Died | 2w | 4m |
|
| ||||
Note: GSD: Glycogen storage disease, FOD: Fatty acid oxidation deficiencies, CPT: Carnitine palmitoyl transferase deficiency, VLCAD: Very long chain acyl-CoA dehydogenase deficiency, GA II: Gluteric aciduria.