Clinical and laboratory findings useful for orienting diagnosis of some genetic metabolic liver diseases with hepatic steatosis [19]

Clinical/laboratory findingsPossible genetic-metabolic causesPrevalenceLiver involvement
Pancreatic failure, hematological disordersSchwachman syndrome1:50000+++1
Asymptomatic, hemolysisWilson disease1.30000+++
Previous neonatal cholestasis, hepatomegalyAlfa 1 antitrypsin deficiency1:7000+++
Hypoglycemia, hepatomegalyGlycogen storage disease (I, VI, IX)From 1:00000 to 1:1000000+++
Fructose refusal, hepatomegalyHereditary fructose intolerance1:20000+++
Lethargy, increased serum ammonia levelsUrea cycle defects1:30000 (all disorders)++
Chubby face, fatty liver, specific serum amino acids patternCitrin deficiency1:20000 (east Asia)++
Failure to thrive, lactic acidosisMitochondrial disease1:8500+
Failure to thrive, ketoacidosis, hypoglycemiaOrganic acidosis1:1000 (all disorders)+
Mild coagulopathy, clinical phenotypeCongenital disorders of glycosylationFrom 1.10000 to 1.100000+
Short stature, female gender, karyotypeTurner syndrome1:2000+
Failure to thrive, positive sweat testCystic fibrosis1:2500+

Possible in 1–2 years of life; + Possible; ++ Frequent; +++ Almost always