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GTR Home > Conditions/Phenotypes > Fructose-biphosphatase deficiency

Fructose-biphosphatase deficiency

Synonyms
Baker-Winegrad disease; Fructose 1,6 Bisphosphatase Deficiency; Fructose-1,6-Diphosphatase Deficiency
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Fructose-1,6-Bisphosphatase Deficiency
Fructose-1,6-bisphosphatase (FBP1) deficiency is characterized by episodic acute crises of lactic acidosis and ketotic hypoglycemia, manifesting as hyperventilation, apneic spells, seizures, and/or coma. Acute crises are most common in early childhood; nearly half of affected children have hypoglycemia in the neonatal period (especially the first 4 days) resulting from deficient glycogen stores. Factors known to trigger episodes include fever, fasting, decreased oral intake, vomiting, infections, and ingestion of large amounts of fructose. In untreated individuals, symptoms worsen progressively as continued catabolism leads to multiorgan failure (especially liver, brain, and later heart). Morbidity and mortality are high. Sepsis, blindness, and Reye syndrome-like presentation have been reported. In between acute episodes, children are asymptomatic. While the majority of affected children have normal growth and psychomotor development, a few have intellectual disability, presumably due to early and prolonged hypoglycemia.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Sunita Bijarnia-Mahay
Sameer Bhatia
Veronica Arora
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Available tests

46 tests are in the database for this condition.

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Clinical tests (46 available)

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Molecular Genetics Tests

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  • Also known as: FBP, FBP1
    Summary: fructose-bisphosphatase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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