All issues > Volume 34(11); 1991

Original Article

J Korean Pediatr Soc. 1991;34(11):1477-1493. Published online November 30, 1991.

Clinical study on metabolic liver diseases in infancy and childhood.

Jeong Lim Kim¹, Ki Sup Chung¹

¹Department of Pediatrics, Yonsei University College of Medicne, Seoul, Korea

Received: July 1, 1991;  Accepted: July 4, 1991.

Abstract

The liver plays a central role in synthetic, degradative, and regulatory pathways involving the metabolism of carbohydrates, protein, lipid, mineral, and vitamins. There are many metabolic abnormalities or specific enzyme deficiencies that affect the liver. The clinical manifestations of metabolic diseases of the liver mimic infections, intoxications, and other systemic diseases. The comprehension of the pathogenesis on the inborn metabolic errors and early diagnosis are essential to a good prognosis. Bur there are few reports on this category of the diseases in Korea, probably because of relatively low incidence, low index of suspicion, and lack of confirmative diagnostic tools. This investigative study of the clinical, laboratory, and pathologic findings of the underlying conditions of the patients, who were admitted during the period from January 1980 to December 1990 with the metabolic disease related to the hepatic dysfunction to the Department of Pediatrics, Yonsei University College of Medicine. The results were as follows: 1) There were obvious liver disorders in 30 cases of 62 patients (48%) with the inborn errors of metabolism, including glycogen storage disease, Wilson disease, Gaucher disease, hereditary tyrosinemia, histidinemia, phenylketonuria and mucopolysaccharidosis. 1) These metabolic problems were most common in the age group of 1 to 5 years old age group, and there was no statistical significance in sex ratio, except in Gaucher disease, where there was a female predominance (1:3). 2) The eldest group at diagnosis was those with Wilson disease and the longest duration between the onset of symptoms and the diagnosis was in cases of phenylketonuria. 3) More than 90% of the patients were of the full-term and of average for gestational age. Only 6. 7% of the patients were of low birth weights, but 70% and 56% were below the 50th percentile in weight and height, respectively, on admission. Therefore, there was growth retardation after birth. 4) Frequent clinical manifestations included hepatomegaly (53%), splenomegaly (43%), hepatos- plenomegaly (40%), abdominal distension (40%) and growth retardation (30%). The major enlarged organs in GSD and Gaucher disease were the liver and the spleen, respectively. 5) Family histories were found in 47% of the patients, most frequent (30%) in siblings. 6) The laboratory findings were anemia (50%), elevated AST (100%), elevated ALT (60%) and elevated serum total bilirubin level (37%X 7) The pathologic findings on liver biopsy were hepatocyte swelling, glycogen nuclei, intrahepatic cholestasis and fatty changes. The above results indicate there were obvious liver disorders in about half of the patients with the inborn errors of metabolism, such as glycogen storage disease, Wilson disease, and Gaucher disease in Korea. Further evaluations of the liver, such as the liver biopsy, are essential to early diagnosis and good prognosis for the inborn errors of metabolism and should be required in the patients with the unknown hepatomegaly, splenomegaly, and deteriorated liver function.

Keywords :Metabolic liver diseases