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Fructose-1,6-bisphosphatase deficiency


Other Names:
Fructose 1,6 diphosphatase deficiency; Baker-Winegrad disease
Categories:
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. Without treatment, affected people can experience hypoglycemia and metabolic acidosis on fasting, episodes of hyperventilation, suspension of breathing (apnea), and elevated levels of ketones in their blood (ketosis).[1][2] 

Fructose-1,6-bisphosphatase deficiency is inherited in an autosomal recessive manner. Inherited mutations in the FBP1 gene cause a deficiency of the enzyme fructose-1,6-bisphosphatase. This deficiency, in turn, results in impaired production of glucose.[1][2] 

This disorder can be treated by complete avoidance of fructose and its related sugars, as well as by avoiding prolonged periods of fasting. Typically, having of small amounts of fructose and related sugars may be tolerated in most patients with fructose-1,6-bisphosphatase deficiency. No other specific medical therapy is generally required.[2]
Last updated: 9/19/2014

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal enzyme/coenzyme activity 0012379
Metabolic acidosis 0001942
30%-79% of people have these symptoms
Diarrhea
Watery stool
0002014
Fasting hypoglycemia
Low blood sugar when fasting
0003162
Hyperuricemia
High blood uric acid level
0002149
Intermittent lactic acidemia 0004913
Vomiting
Throwing up
0002013
5%-29% of people have these symptoms
Apneic episodes in infancy 0005949
Coma 0001259
Drowsiness
Sleepy
0002329
Elevated hepatic transaminase
High liver enzymes
0002910
Episodic tachypnea 0002876
Excessive daytime somnolence
More than typical sleepiness during day
0001262
Hepatic steatosis
Fatty infiltration of liver
Fatty liver
[ more ] 		0001397
Hepatomegaly
Enlarged liver
0002240
Increased urinary glycerol 0040301
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] 		0001249
Intermittent hyperventilation
Intermittent overbreathing
0004879
Irritability
Irritable
0000737
Ketosis
High levels of ketone bodies
0001946
Muscular hypotonia
Low or weak muscle tone
0001252
Neonatal hyperbilirubinemia 0003265
Neonatal hypoglycemia
Low blood sugar in newborn
0001998
Pallor 0000980
Respiratory distress
Breathing difficulties
Difficulty breathing
[ more ] 		0002098
Reye syndrome-like episodes 0006582
Seizure 0001250
Tachycardia
Fast heart rate
Heart racing
Racing heart
[ more ] 		0001649
Ventriculomegaly 0002119
1%-4% of people have these symptoms
Hyperalaninemia
Increased blood alanine
Increased serum alanine
[ more ] 		0003348
Percent of people who have these symptoms is not available through HPO
Apnea 0002104
Autosomal recessive inheritance 0000007
Dyspnea
Trouble breathing
0002094
Fever 0001945
Generalized hypotonia
Decreased muscle tone
Low muscle tone
[ more ] 		0001290
Hyperventilation
Rapid breathing
0002883
Hypoglycemia
Low blood sugar
0001943
Lethargy 0001254
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Last updated: 7/1/2020

The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.

Management Guidelines

  • Orphanet Emergency Guidelines is an article which is expert-authored and peer-reviewed that is intended to guide health care professionals in emergency situations involving this condition.  

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnosis includes glycogen storage disease due to glucose-6-phosphatase deficiency (see this term).
Visit the Orphanet disease page for more information.

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Fructose-1,6-bisphosphatase deficiency. Click on the link to view a sample search on this topic.

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  1. Fructose-1,6-bisphosphatase deficiency. Online Mendelian Inheritance in Man (OMIM). Last edited: 10/12/2010; http://omim.org/entry/229700.
  2. Sinha S. Fructose 1,6-Diphosphatase Deficiency. Medscape Reference. Last updated: 11/25/2013; http://emedicine.medscape.com/article/943882-overview.