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Defects in glucose Transporters leading to hypoglycemia

Glucose Transporter glut 1 deficiency patients have low glucose levels in cerebrospinal foods despite having normal serum glucose levels

The concentration of lactate is also low in the cerebrospinal fluid suggesting decreased glycolysis rather than bacterial infection and hence it shows that the cause of low CSF glucose is not the bacterial infection but actually the Transporter defect

High ketogenic diet reduces the severity of seizures by supplying an alternative source of brain fuel which then bypasses the defect in glucose transport

In glucose Transporter 2 deficiency children have hepatomegaly , galactose intolerance and Renal tubular dysfunction collectively known as fanconi-bickel syndrome.

The clinical manifestations related to hepatomegaly and Hypoglycemia are there because of impaired release from liver and due to defective tubular reabsorption there may be associated phosphaturia and aminoaciduria.

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