Investigation of Clinical Manifestations of Congenital Metabolic Liver Diseases in Patients Referring to Children Medical Center during 2013-2015

  Congenital metabolic disorders are caused by a single enzyme deficiency due to abnormal synthesis or catabolism of proteins, carbohydrates, and lipids. The aim of this study was to investigate the clinical manifestations of congenital metabolic liver disease in patients referring to the Children Medical Center.

This study was a descriptive cross-sectional study on patients with congenital metabolic liver disease referred to the Children Medical Center during 2013-2015. Patients' information included history of the disease, anthropometric variables, gastrointestinal examinations, neurology, retina, and systemic examinations.

During the years 2013-2015, out of 87 children with congenital liver disease referred to the Children Medical Center Hospital, 48 children were female (55%) and 39 were male (45%). Pallor (90%), hepatomegaly (75%), abdominal pain (70%), vomiting (70%), and jaundice (70%), were the most commonly reported clinical signs in these patients, tyrosinemia was reported as the most common causes of metabolic liver disease (20 cases). Other causes included cystic fibrosis (15 cases), glycogen storage disease (12 cases), galactosemia (8 cases), and Wilson disease (7 cases).

Considering the increasing incidence of congenital hepatic metabolic diseases, identification of clinical manifestations and etiologic factors is important in this disease. Currently, with the development of facilities and new screening tests at birth, inherited metabolic diseases could be recognized.