Fructose-1,6-bisphosphatase deficiency

MONDO:0009251

Fructose-1,6-biphosphatase (FBP) deficiency is a disorder of fructose metabolism characterized by recurrent episodes of fasting hypoglycemia with lactic acidosis, that may be life-threatening in neonates and infants.

Also known as: fructose-1,6-bisphosphatase deficiency, fructose-1,6-diphosphatase deficiency, FBP1D, baker-Winegrad disease, fructose 1,6 diphosphatase deficiency

1 clinical trial for this condition and its sub-types, 1 tagged with Fructose-1,6-bisphosphatase deficiency itself.

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Where it sits in the disease tree

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↑ Disorder of gluconeogenesis (1)

Including sub-types (1) Tagged with Fructose-1,6-bisphosphatase deficiency (1)

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Newborn screening study aims to catch rare diseases at birth

Diagnosis Ongoing

This study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…

Sponsor: RTI International • Aim: Diagnosis

Last updated Jul 03, 2026 00:00 UTC

Fructose-1,6-bisphosphatase deficiency

Where it sits in the disease tree

Newborn screening study aims to catch rare diseases at birth