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Fructose-biphosphatase deficiency(FBP1D)

MedGen UID:
42106
Concept ID:
C0016756
Disease or Syndrome
Synonyms: Baker-Winegrad disease; FBP1D; Fructose 1,6 Bisphosphatase Deficiency; Fructose-1,6-Diphosphatase Deficiency
SNOMED CT: Fructose-1,6-bisphosphatase deficiency (28183005); Fructose-biphosphatase deficiency (28183005); Fructose-1,6-diphosphatase deficiency (28183005); Hereditary fructose-1,6-phosphatase deficiency (28183005)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): FBP1 (9q22.32)
 
Monarch Initiative: MONDO:0009251
OMIM®: 229700
Orphanet: ORPHA348

Disease characteristics

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. [from GeneReviews]
Authors:
Sunita Bijarnia-Mahay  |  Sameer Bhatia  |  Veronica Arora   view full author information

Additional description

From OMIM
Fructose-1,6-bisphosphatase deficiency is an autosomal recessive disorder characterized by impaired gluconeogenesis. Patients present with hypoglycemia and metabolic acidosis on fasting and may have episodes of hyperventilation, apnea, hypoglycemia, and ketosis. Although the disorder may be lethal in the newborn period, proper treatment yields an excellent prognosis (Kikawa et al., 1997; Matsuura et al., 2002).  http://www.omim.org/entry/229700

Clinical features

From HPO
Increased urinary glycerol
MedGen UID:
388667
Concept ID:
C2673558
Finding
An increased concentration of glycerol in the urine.
Tachycardia
MedGen UID:
21453
Concept ID:
C0039231
Finding
A rapid heartrate that exceeds the range of the normal resting heartrate for age.
Hepatomegaly
MedGen UID:
42428
Concept ID:
C0019209
Finding
Abnormally increased size of the liver.
Coma
MedGen UID:
1054
Concept ID:
C0009421
Disease or Syndrome
The complete absence of wakefulness and consciousness, which is evident through a lack of response to any form of external stimuli.
Lethargy
MedGen UID:
7310
Concept ID:
C0023380
Sign or Symptom
A state of disinterest, listlessness, and indifference, resulting in difficulty performing simple tasks or concentrating.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Irritability
MedGen UID:
397841
Concept ID:
C2700617
Mental Process
A proneness to anger, i.e., a tendency to become easily bothered or annoyed.
Hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Apnea
MedGen UID:
2009
Concept ID:
C0003578
Sign or Symptom
Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event.
Dyspnea
MedGen UID:
3938
Concept ID:
C0013404
Sign or Symptom
Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.
Hyperventilation
MedGen UID:
9377
Concept ID:
C0020578
Finding
Hyperventilation refers to an increased pulmonary ventilation rate that is faster than necessary for the exchange of gases. Hyperventilation can result from increased frequency of breathing, an increased tidal volume, or both, and leads to an excess intake of oxygen and the blowing off of carbon dioxide.
Fever
MedGen UID:
5169
Concept ID:
C0015967
Sign or Symptom
Body temperature elevated above the normal range.
Hypoglycemia
MedGen UID:
6979
Concept ID:
C0020615
Disease or Syndrome
A decreased concentration of glucose in the blood.
Ketosis
MedGen UID:
7206
Concept ID:
C0022638
Disease or Syndrome
Presence of elevated levels of ketone bodies in the body.
Metabolic acidosis
MedGen UID:
65117
Concept ID:
C0220981
Pathologic Function
Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause.
Reduced tissue fructose-1,6-bisphosphatase activity
MedGen UID:
1842090
Concept ID:
C5826819
Finding
Activity of fructose-1,6-bisphosphatase (EC 3.1.3.11) below the lower limit of normal. The activity can be measured in multiple tissues including liver and leukocytes.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFructose-biphosphatase deficiency
Follow this link to review classifications for Fructose-biphosphatase deficiency in Orphanet.

Professional guidelines

PubMed

Sakuma I, Nagano H, Hashimoto N, Fujimoto M, Nakayama A, Fuchigami T, Taki Y, Matsuda T, Akamine H, Kono S, Kono T, Yokoyama M, Nishimura M, Yokote K, Ogasawara T, Fujii Y, Ogawa S, Lee E, Miki T, Tanaka T
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Orphanet J Rare Dis 2018 Jan 25;13(1):21. doi: 10.1186/s13023-018-0760-3. PMID: 29370874Free PMC Article
Pronicka E, Gruszczyńska B, Badurska B, Fidziańska A, Moszczyńska A
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Recent clinical studies

Etiology

Emecen Sanli M, Cengiz B, Kilic A, Ozsaydi E, Inci A, Okur I, Tumer L, Lebigot E, Ezgu F
J Pediatr Endocrinol Metab 2022 Apr 26;35(4):497-503. Epub 2022 Feb 18 doi: 10.1515/jpem-2021-0732. PMID: 35179010
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J Inherit Metab Dis 2022 Mar;45(2):215-222. Epub 2021 Dec 1 doi: 10.1002/jimd.12452. PMID: 34687058
Mayatepek E, Hoffmann B, Meissner T
Best Pract Res Clin Gastroenterol 2010 Oct;24(5):607-18. doi: 10.1016/j.bpg.2010.07.012. PMID: 20955963
Hopwood NJ, Holzman I, Drash AL
Am J Dis Child 1977 Apr;131(4):418-21. doi: 10.1001/archpedi.1977.02120170044009. PMID: 192069
Israels S, Haworth JC, Dunn HG, Applegarth DA
Adv Pediatr 1976;22:267-303. PMID: 178159

Diagnosis

Gorce M, Lebigot E, Arion A, Brassier A, Cano A, De Lonlay P, Feillet F, Gay C, Labarthe F, Nassogne MC, Roche S, Roubertie A, Sacaze E, Touati G, Broué P
J Inherit Metab Dis 2022 Mar;45(2):215-222. Epub 2021 Dec 1 doi: 10.1002/jimd.12452. PMID: 34687058
Pinto A, Alfadhel M, Akroyd R, Atik Altınok Y, Bernabei SM, Bernstein L, Bruni G, Caine G, Cameron E, Carruthers R, Cochrane B, Daly A, de Boer F, Delaunay S, Dianin A, Dixon M, Drogari E, Dubois S, Evans S, Gribben J, Gugelmo G, Heidenborg C, Hunjan I, Kok IL, Kumru B, Liguori A, Mayr D, Megdad E, Meyer U, Oliveira RB, Pal A, Pozzoli A, Pretese R, Rocha JC, Rosenbaum-Fabian S, Serrano-Nieto J, Sjoqvist E, Timmer C, White L, van den Hurk T, van Rijn M, Zweers H, Ziadlou M, MacDonald A
Orphanet J Rare Dis 2018 Jan 25;13(1):21. doi: 10.1186/s13023-018-0760-3. PMID: 29370874Free PMC Article
Li N, Chang G, Xu Y, Ding Y, Li G, Yu T, Qing Y, Li J, Shen Y, Wang J, Wang X
Int J Mol Sci 2017 Apr 18;18(4) doi: 10.3390/ijms18040857. PMID: 28420223Free PMC Article
van den Berghe G
J Inherit Metab Dis 1996;19(4):470-7. doi: 10.1007/BF01799108. PMID: 8884571
Hofeldt FD
Metabolism 1975 Oct;24(10):1193-208. doi: 10.1016/0026-0495(75)90156-0. PMID: 1165734

Therapy

Si Z, Su W, Zhou Z, Li J, Su C, Zhang Y, Hu Z, Huang Z, Zhou H, Cong A, Zhou Z, Cao W
Clin Transl Med 2023 Dec;13(12):e1498. doi: 10.1002/ctm2.1498. PMID: 38037461Free PMC Article
Mayatepek E, Hoffmann B, Meissner T
Best Pract Res Clin Gastroenterol 2010 Oct;24(5):607-18. doi: 10.1016/j.bpg.2010.07.012. PMID: 20955963
Hasegawa Y, Kikawa Y, Miyamaoto J, Sugimoto S, Adachi M, Ohura T, Mayumi M
Pediatr Int 2003 Feb;45(1):5-9. doi: 10.1046/j.1442-200x.2003.01662.x. PMID: 12654061
Hopwood NJ, Holzman I, Drash AL
Am J Dis Child 1977 Apr;131(4):418-21. doi: 10.1001/archpedi.1977.02120170044009. PMID: 192069
Pagliara AS, Karl IE, Keating JP, Brown BI, Kipnis DM
J Clin Invest 1972 Aug;51(8):2115-23. doi: 10.1172/JCI107018. PMID: 4341015Free PMC Article

Prognosis

Gorce M, Lebigot E, Arion A, Brassier A, Cano A, De Lonlay P, Feillet F, Gay C, Labarthe F, Nassogne MC, Roche S, Roubertie A, Sacaze E, Touati G, Broué P
J Inherit Metab Dis 2022 Mar;45(2):215-222. Epub 2021 Dec 1 doi: 10.1002/jimd.12452. PMID: 34687058
Mayatepek E, Hoffmann B, Meissner T
Best Pract Res Clin Gastroenterol 2010 Oct;24(5):607-18. doi: 10.1016/j.bpg.2010.07.012. PMID: 20955963
Hasegawa Y, Kikawa Y, Miyamaoto J, Sugimoto S, Adachi M, Ohura T, Mayumi M
Pediatr Int 2003 Feb;45(1):5-9. doi: 10.1046/j.1442-200x.2003.01662.x. PMID: 12654061
van den Berghe G
J Inherit Metab Dis 1996;19(4):470-7. doi: 10.1007/BF01799108. PMID: 8884571
Hopwood NJ, Holzman I, Drash AL
Am J Dis Child 1977 Apr;131(4):418-21. doi: 10.1001/archpedi.1977.02120170044009. PMID: 192069

Clinical prediction guides

Gorce M, Lebigot E, Arion A, Brassier A, Cano A, De Lonlay P, Feillet F, Gay C, Labarthe F, Nassogne MC, Roche S, Roubertie A, Sacaze E, Touati G, Broué P
J Inherit Metab Dis 2022 Mar;45(2):215-222. Epub 2021 Dec 1 doi: 10.1002/jimd.12452. PMID: 34687058
Moey LH, Abdul Azize NA, Yakob Y, Leong HY, Keng WT, Chen BC, Ngu LH
Pediatr Neonatol 2018 Aug;59(4):397-403. Epub 2017 Nov 13 doi: 10.1016/j.pedneo.2017.11.006. PMID: 29203193
Ijaz S, Zahoor MY, Imran M, Ramzan K, Bhinder MA, Shakeel H, Iqbal M, Aslam A, Shehzad W, Cheema HA, Rehman H
J Pediatr Endocrinol Metab 2017 Oct 26;30(11):1203-1210. doi: 10.1515/jpem-2017-0188. PMID: 29016355
Sherazi NA, Khan AH, Jafri L, Jamil A, Khan NA, Afroze B
J Coll Physicians Surg Pak 2017 Apr;27(4):218-221. PMID: 28492150
Åsberg C, Hjalmarson O, Alm J, Martinsson T, Waldenström J, Hellerud C
J Inherit Metab Dis 2010 Dec;33 Suppl 3:S113-21. Epub 2010 Feb 12 doi: 10.1007/s10545-009-9034-5. PMID: 20151204

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