Clinical and laboratory findings useful for orienting diagnosis of some genetic metabolic liver diseases with hepatic steatosis [19]
| Clinical/laboratory findings | Possible genetic-metabolic causes | Prevalence | Liver involvement |
|---|---|---|---|
| Pancreatic failure, hematological disorders | Schwachman syndrome | 1:50000 | +++ |
| Asymptomatic, hemolysis | Wilson disease | 1.30000 | +++ |
| Previous neonatal cholestasis, hepatomegaly | Alfa 1 antitrypsin deficiency | 1:7000 | +++ |
| Hypoglycemia, hepatomegaly | Glycogen storage disease (I, VI, IX) | From 1:00000 to 1:1000000 | +++ |
| Fructose refusal, hepatomegaly | Hereditary fructose intolerance | 1:20000 | +++ |
| Lethargy, increased serum ammonia levels | Urea cycle defects | 1:30000 (all disorders) | ++ |
| Chubby face, fatty liver, specific serum amino acids pattern | Citrin deficiency | 1:20000 (east Asia) | ++ |
| Failure to thrive, lactic acidosis | Mitochondrial disease | 1:8500 | + |
| Failure to thrive, ketoacidosis, hypoglycemia | Organic acidosis | 1:1000 (all disorders) | + |
| Mild coagulopathy, clinical phenotype | Congenital disorders of glycosylation | From 1.10000 to 1.100000 | + |
| Short stature, female gender, karyotype | Turner syndrome | 1:2000 | + |
| Failure to thrive, positive sweat test | Cystic fibrosis | 1:2500 | + |
Possible in 1–2 years of life; + Possible; ++ Frequent; +++ Almost always