Journal of Gastroenterology

, Volume 40, Issue 8, pp 820-826

Hypertransaminasemia in childhood as a marker of genetic liver disorders

  • Raffaele IorioAffiliated withDepartment of Pediatrics, University of Naples “Federico II”
  • , Angela SepeAffiliated withDepartment of Pediatrics, University of Naples “Federico II”
  • , Antonietta GiannattasioAffiliated withDepartment of Pediatrics, University of Naples “Federico II”
  • , Francesco CirilloAffiliated withDepartment of Pediatrics, University of Naples “Federico II”
  • , Angela VegnenteAffiliated withDepartment of Pediatrics, University of Naples “Federico II”

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The widespread use of routine biochemical assays has led to increased incidental findings of hypertransaminasemia. We aimed to evaluate the prevalence of different causes of raised aminotransferase levels in children referred to a university department of pediatrics.


We investigated 425 consecutive children (age range, 1–18 years) with isolated hypertransaminasemia. All patients had raised aminotransferase levels on at least two occasions in the last month before observation. Cases due to major hepatotropic viruses were excluded.


During the first 6 months of observation, 259 children showed normalized liver enzymes. Among the remaining 166 patients with hypertransaminasemia lasting for more than 6 months, 75 had obesity-related liver disease; 51, genetic disorders; 7, autoimmune hepatitis; 5, cholelithiasis; 3, choledochal cyst; and 3, celiac disease. Among the 51 children with genetic disorders, 18 had Wilson disease; 14, muscular dystrophy; 4, alpha-1-antitrypsin deficiency; 4, Alagille syndrome; 4, hereditary fructose intolerance; 3, glycogen storage disease (glycogenosis IX); 2, ornithine transcarbamylase deficiency; and 2, Shwachman’s syndrome. In 22 children, the hypertransaminasemia persisted for more than 6 months in the absence of a known cause.


Genetic disease accounted for 12% of cases of isolated hypertransaminasemia observed in a tertiary pediatric department. A high level of suspicion is desirable for an early diagnosis of these disorders, which may present with isolated hypertransaminasemia and absence of typical clinical signs.

Key words

transaminases cryptogenic hepatitis children metabolic diseases