Fructose-1,6-Bisphosphatase Deficiency Overview
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Learn About Fructose-1,6-Bisphosphatase Deficiency
What is the definition of Fructose-1,6-Bisphosphatase Deficiency?
Fructose-1,6-bisphosphatase deficiency is an inherited metabolic disorder in which the body cannot properly make glucose. Glucose is the main type of sugar in the blood and a primary source of energy for the body's cells. Fructose-1,6-bisphosphatase deficiency is inherited in an autosomal recessive manner. Inherited genetic changes in the FBP1 gene cause a deficiency of the enzyme fructose-1,6-bisphosphatase. This deficiency, in turn, results in impaired production of glucose.
What are the alternative names for Fructose-1,6-Bisphosphatase Deficiency?
- Fructose-1,6-bisphosphatase deficiency
- Baker-Winegrad disease
- Fructose 1,6 diphosphatase deficiency
Who are the top Fructose-1,6-Bisphosphatase Deficiency Local Doctors?
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What are the latest Fructose-1,6-Bisphosphatase Deficiency Clinical Trials?
Universal Genomic Newborn Screening in the Wallonia-Brussels Federation: Baby Detect
Enrollment Status: Recruiting
Publish Date: February 12, 2025
Summary: Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions. With a simple blood test, rare genetic conditions can be easily detected, and the early start of transformative treatment will help avoid severe disabilities and increase the quality of life. Baby Detect Project is an innovative NBS program using a pane...
Who are the sources who wrote this article ?
Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center
What are the Latest Advances for Fructose-1,6-Bisphosphatase Deficiency?
Infantile Fructose-1,6-Bisphosphatase Deficiency Masquerading as Mitochondriopathy.
Journal: Cureus
Published: July 22, 2024
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An extremely rare case of hypoglycemia with a novel mutation and review of the literature: fructose-1,6 bisphosphatase deficiency in an adult man.
Journal: Irish journal of medical science
Published: December 22, 2023