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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
Sources: HPO, OMIM
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)
 
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
Complete absence of wakefulness and content of conscience, which manifests itself as a lack of response to any kind of external stimuli.
Lethargy
MedGen UID:
7310
Concept ID:
C0023380
Sign or Symptom
A state of disinterestedness, listlessness, and indifference, resulting in difficulty performing simple tasks or concentrating.
Seizures
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterised 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 condition of being easily bothered or annoyed.
Muscular hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
A condition of decreased tone of the skeletal muscles and diminished resistance to passive stretching.
Generalized hypotonia
MedGen UID:
346841
Concept ID:
C1858120
Finding
Generalized muscular hypotonia (abnormally low muscle tone).
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.
Increased urinary glycerol
MedGen UID:
388667
Concept ID:
C2673558
Finding
An increased concentration of glycerol in the urine.

Term Hierarchy

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

Recent clinical studies

Etiology

Kılıç M, Kasapkara ÇS, Yılmaz DY, Özgül RK
Metab Brain Dis 2019 Oct;34(5):1487-1491. Epub 2019 Jul 5 doi: 10.1007/s11011-019-00455-8. PMID: 31278438
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
Kinugasa A, Kusunoki T, Iwashima A
Pediatr Res 1979 Dec;13(12):1361-4. doi: 10.1203/00006450-197912000-00012. PMID: 230449
Hopwood NJ, Holzman I, Drash AL
Am J Dis Child 1977 Apr;131(4):418-21. doi: 10.1001/archpedi.1977.02120170044009. PMID: 192069

Diagnosis

Salih RM, Mohammed EA, Alhashem AM, Mohamed S, Al-Aqeel AI
Saudi Med J 2020 Feb;41(2):199-202. doi: 10.15537/smj.2020.2.24885. PMID: 32020156Free PMC Article
Kılıç M, Kasapkara ÇS, Yılmaz DY, Özgül RK
Metab Brain Dis 2019 Oct;34(5):1487-1491. Epub 2019 Jul 5 doi: 10.1007/s11011-019-00455-8. PMID: 31278438
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
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
Kamate M, Jambagi M, Gowda P, Sonoli S
BMJ Case Rep 2014 Sep 22;2014 doi: 10.1136/bcr-2013-201553. PMID: 25246452Free PMC Article

Therapy

Kamate M, Jambagi M, Gowda P, Sonoli S
BMJ Case Rep 2014 Sep 22;2014 doi: 10.1136/bcr-2013-201553. PMID: 25246452Free PMC Article
Erol S, Aydin B, Dilli D, Okumuş N, Zenciroğlu A, Gündüz M
Clin Lab 2014;60(1):151-3. doi: 10.7754/clin.lab.2013.130245. PMID: 24600990
Eren E, Edgunlu T, Abuhandan M, Yetkin I
DNA Cell Biol 2013 Nov;32(11):635-9. Epub 2013 Sep 5 doi: 10.1089/dna.2013.2119. PMID: 24007283
Nitzan O, Saliba WR, Goldstein LH, Elias MS
Ann Hematol 2004 May;83(5):302-3. Epub 2003 Oct 10 doi: 10.1007/s00277-003-0784-0. PMID: 15064857
Hopwood NJ, Holzman I, Drash AL
Am J Dis Child 1977 Apr;131(4):418-21. doi: 10.1001/archpedi.1977.02120170044009. PMID: 192069

Prognosis

Kılıç M, Kasapkara ÇS, Yılmaz DY, Özgül RK
Metab Brain Dis 2019 Oct;34(5):1487-1491. Epub 2019 Jul 5 doi: 10.1007/s11011-019-00455-8. PMID: 31278438
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
Ramakrishna SH, Patil SJ, Jagadish AA, Sapare AK, Sagar H, Kannan S
J Pediatr Endocrinol Metab 2017 May 24;30(6):703-706. doi: 10.1515/jpem-2017-0078. PMID: 28599390
Kato S, Nakajima Y, Awaya R, Hata I, Shigematsu Y, Saitoh S, Ito T
Tohoku J Exp Med 2015 Nov;237(3):235-9. doi: 10.1620/tjem.237.235. PMID: 26549536
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

Clinical prediction guides

Salih RM, Mohammed EA, Alhashem AM, Mohamed S, Al-Aqeel AI
Saudi Med J 2020 Feb;41(2):199-202. doi: 10.15537/smj.2020.2.24885. PMID: 32020156Free PMC Article
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
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
Faiyaz-Ul-Haque M, Al-Owain M, Al-Dayel F, Al-Hassnan Z, Al-Zaidan H, Rahbeeni Z, Al-Sayed M, Balobaid A, Cluntun A, Toulimat M, Abalkhail H, Peltekova I, Zaidi SH
Eur J Pediatr 2009 Dec;168(12):1467-71. Epub 2009 Mar 4 doi: 10.1007/s00431-009-0953-9. PMID: 19259699

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