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Disturbance of fructose metabolism
Last reviewed: 23.04.2024
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Deficiency of fructose-1-phosphataldolase (aldolase B)
If this enzyme is deficient, a clinical syndrome of congenital intolerance to fructose develops. Type of inheritance is autosomal recessive; the frequency is estimated as 1/20 000 births. The child is healthy until he receives fructose with food; then fructose phosphate accumulates, causing hypoglycemia, nausea and vomiting, abdominal pain, sweating, tremor, confusion, drowsiness, convulsions and coma. Long-term use of fructose can lead to the development of cirrhosis, mental retardation and proximal renal tubular acidosis with loss of phosphate and glucose in the urine.
The diagnosis is based on symptoms in combination with a recent fructose intake, confirming the diagnosis by the study of enzymes in liver tissue or induction of hypoglycemia by intravenous infusion of fructose 200 mg / kg.
Diagnosis and detection of heterozygous carriers of the mutant gene can also be performed using direct DNA testing. The acute therapy includes the administration of glucose to treat hypoglycemia; It is always necessary to exclude fructose, sucrose and sorbitol from the diet. In many patients aversion to fructose-containing food develops over time. The prognosis is excellent under condition of treatment.
[10], [11], [12], [13], [14], [15]
Deficiency of fructokinase
Deficiency of this enzyme causes a benign increase in the level of fructose in the blood and urine (benign fructosuria). Type of inheritance is autosomal recessive; the frequency is about 1/130 000 births. This condition is asymptomatic and is diagnosed accidentally when reparative substances other than glucose are detected in the urine.
[16], [17], [18], [19], [20], [21], [22]
Deficiency of fructose-1,6-bisphosphatase
When this enzyme is deficient, gluconeogenesis is disturbed, resulting in fasting hypoglycemia, ketosis and acidosis. This disease can be fatal in the neonatal period. Type of inheritance is autosomal recessive; frequency is unknown. Diseases that occur with fever to febrile digits can provoke episodes. In an acute period, treatment involves the administration of glucose inside or intravenously. The tolerability of fasting, as a rule, improves with age.
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