Fructose-1,6-Bisphosphatase Deficiency (FBP1)

Fructose-1,6-bisphosphatase deficiency is an autosomal recessive disorder caused by pathogenic variants in the gene FBP1. Affected individuals can manifest symptoms at birth or infancy, which include hyperventilation, hypoglycemia, metabolic acidosis, apnea, lactic acidosis, and ketosis. This disorder is often lethal in the newborn period and infancy.

For information about carrier frequency and residual risk, please see the residual risk table.

This gene is included on the following panel(s):