Persistent hypertransaminasemia in asymptomatic children: A stepwise approach

Table 4 Clinical and laboratory findings for orienting diagnosis of some genetic metabolic liver diseases

Clinical/laboratory findings	Possible genetic-metabolic cause	Prevalence	Liver involvement
Pancreatic failure, hematological disorders	Shwachman syndrome	1:50000	+++1
Asymptomatic, hemolysis	Wilson’s disease	1:30000	+++
Previous neonatal cholestasis, hepatomegaly	Alpha 1 antitrypsin deficiency	1:7000	+++
Hypoglycemia, hepatomegaly	Glycogen storage disease (type I, VI and IX)	From 1:100000 to 1:1000000	+++
Fructose refusal, hepatomegaly	Hereditary fructose intolerance	1:20000	+++
Lethargy, increased serum ammonia levels	Urea cycle defects	1:30000 (all disorders)	++
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 in East Asia	++
Failure to thrive, lactic acidosis	Mitochondrial diseases	1:8500 (all disorders)	+
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	+

¹First 1-2 yr of life; +: Possible; ++: Frequent; +++: Almost always.