Fructose 1,6 diphosphatase deficiency in a Turkish infant

Excerpt

A six-month-old girl was admitted to our hospital with diarrhea, vomiting, convulsions and respiratory symptoms. She was born at full term after an uneventful pregnancy and delivery with a birth weight of 3000 g. The medical and family history was unremarkable until the age of 6 months, when a respiratory infection was associated with hypoglycemia and metabolic acidosis. The girl was the third child of healthy parents who were consanguineous. The other two children were healthy. The mother did, however, have an abortion when the baby was 4 months old. The patient had not been given anything except breastmilk since delivery. On admission, physical examination showed tachypnea, dehydration, and hepatomegaly of 6 cm under the costal margin. The initial laboratory findings revealed severe metabolic acidosis (pH 6.98, HCO₃: 2 mmol/L, base excess:–28 mmol/L), hypoglycemia (glucose: 39 mg/dL), ketonuria, hyperuricemia (uric acid 20 mg/dL) and increased liver enzymes (AST: 379 U/L, ALT: 139 U/L). A liver of increased echogeneity was observed on abdominal sonography. Other routine laboratory parameters were unremarkable. According to the analysis of the organic acids in urine (3-OH butyric acid: 38,780 mmol/mol creatinine; 2-OH butyric acid: 570 mmol/mol creatinine; glycerol: 14,500 mmol/mol creatinine), these last findings confimed the diagnosis of fructose-1,6-diphosphatase (FDPase) deficiency. …