GTR Home > Tests > Fructose-1,6-bisphosphatase deficiency

Indication

This is a clinical test intended for Help: Diagnosis

Clinical summary

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Imported from GeneReviews

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.

Clinical features

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Imported from Human Phenotype Ontology (HPO)

  • Apnea
  • Coma
  • Dyspnea
  • Fever
  • Hepatomegaly
  • Hyperventilation
  • Hypoglycemia
  • Ketosis
  • Lethargy
  • Muscular hypotonia
  • Seizures
  • Tachycardia
  • Metabolic acidosis
  • Generalized hypotonia
  • Increased urinary glycerol
  • Irritability
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Conditions tested

Condition/PhenotypeAlso known asIdentifier
Fructose-biphosphatase deficiencyFructose 1,6 Bisphosphatase DeficiencyMIM:229700, C0016756

Target population

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For patients suspected to this particular and patients with positive familial history for this disease, gene sequence analysis is recommended as the first step in mutation identification. For patients in whom mutations are not identified by full gene sequencing, deletion/duplication analysis is appropriate.

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Clinical validity

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Number of mutation were so far reported as causing mutation for this disease. More than dozen mutation were reported and majority of identified mutation are missense/nonsense, that can be identified with 99,9% specificity using standard sequencing at Centogene. Gene test for this gene could support precise diagnosis of the disease in majority of affected patients with family history, as well as number of sporadic patients with particular symptomatology.

Citations

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Clinical utility

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Avoidance of invasive testing

Citations
  • The gene test for this gene will lead to an improved health outcome in affected patients. The test can provide information about diagnosis, and support the treatment, management, or prevention of a disease. This gene test also supports following issues: the effectiveness of available interventions for individuals at increased risk, social consequences of genetic information, economic implications of genetic testing and follow-up of the patients.

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