Rare Cardiology News

Disease Profile

Fructose-1,6-bisphosphatase deficiency

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

All ages

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ICD-10

E74.1

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Fructose 1,6 diphosphatase deficiency; Baker-Winegrad disease

Categories

Congenital and Genetic Diseases; Metabolic disorders

Summary

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]

Symptoms

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.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
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
Excessive daytime sleepiness
More than typical sleepiness during day

[ more ]

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

Treatment

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.

Learn more

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.

References

  1. Fructose-1,6-bisphosphatase deficiency. Online Mendelian Inheritance in Man (OMIM). Last edited: 10/12/2010; https://omim.org/entry/229700.
  2. Sinha S. Fructose 1,6-Diphosphatase Deficiency. Medscape Reference.