Fructose-1,6-bisphosphatase deficiency

Fructose-1,6-biphosphatase (FBP) deficiency is a disorder of fructose metabolism (see this term) characterized by recurrent episodes of fasting hypoglycemia with lactic acidosis, that may be life-threatening in neonates and infants.



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Narrow down the case reports



Total: 28 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(17.5%)		 6253603
 Muscle fructose 1,6-diphosphatase deficiency associated with an atypical central core disease.
Kar NC, Pearson CM, Verity MA.
J Neurol Sci. 1980;48(2):243-56.
Myopathy
Adenosine Triphosphatases Adult Females Fructose-1,6-Bisphosphatase Fructose-1,6-Diphosphatase Deficiency Histocytochemistry Homo sapiens Muscle Tissue Myofibrils Myopathy NADH Tetrazolium Reductase
2
(4.0%)		 29390242
 [Severe lactic acidosis requiring continuos haemodiafiltration in a young patient with unrecognized metabolic abnormality. Case report].
Vigotti FN, Daidola G, Marciello A, Berruto F, Rizzuto A, Reina E, Perosa PM, Saltarelli M.
G Ital Nefrol. 2018;35(1):.
Metabolic acidosis
Acidosis, Lactic Adult Fructose-1,6-Bisphosphatase Fructose-1,6-Diphosphatase Deficiency Genes, Recessive Gluconeogenesis Hemodiafiltration Homo sapiens Hypoglycemia Male
2
(4.0%)		 28420223
(5412439)
 Clinical and Molecular Characterization of Patients with Fructose 1,6-Bisphosphatase Deficiency.
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;18(4):.
Metabolic acidosis
FBP1
c|DEL|704|C c|DEL|720_729| c|INS|960_961|G;RS#:757653154 c|SUB|G|355|A;RS#:758609113 c|SUB|G|490|A;RS#:121918188 c|SUB|G|825+1|A p|FS|P|235|Q|42 p|SUB|D|119|N;RS#:758609113 p|SUB|G|164|S;RS#:121918188
Age of Onset Biological Markers Blood Chemical Analysis Brain Child Child, Preschool DNA Mutational Analysis Females Fructose-1,6-Bisphosphatase Fructose-1,6-Diphosphatase Deficiency Genotype High-Throughput Nucleotide Sequencing Homo sapiens Magnetic Resonance Imaging Male Mutation Phenotype
2
(4.0%)		 25331386
 [Genetic diagnosis of fructose-1, 6-bisphosphatase deficiency: a case report].
Xu K, Liu XQ, Zhang CY, Wang Y, Li X, Wu Y, Yang YL, Xiao HJ.
Beijing Da Xue Xue Bao Yi Xue Ban. 2014;46(5):681-5.
Lethargy
FBP1
c|INS|960/961|G
Child, Preschool Diarrhea Exons Fructose-1,6-Diphosphatase Deficiency Homo sapiens Hypoglycemia Liver Male Mutation Vomiting
2
(4.0%)		 25246452
 Fructose-1,6-diphosphatase deficiency: a treatable neurometabolic disorder.
Kamate M, Jambagi M, Gowda P, Sonoli S.
BMJ Case Rep. 2014;2014:.
Ketosis
Acidosis, Lactic Child, Preschool Females Fructose-1,6-Diphosphatase Deficiency Homo sapiens Hypoglycemia Infant Ketone Bodies Male
2
(4.0%)		 24600990
 An interesting newborn case of fructose 1-6 diphosphatase deficiency triggered after thyme juice ingestion.
Erol S, Aydin B, Dilli D, Okumus N, Zenciroglu A, Gunduz M.
Clin Lab. 2014;60(1):151-3.
Acidosis
Fructose-1,6-Diphosphatase Deficiency Homo sapiens Infant, Newborn Plant Extracts
2
(4.0%)		 24007283
 Novel fructose-1,6-bisphosphatase gene mutation in two siblings.
Eren E, Edgunlu T, Abuhandan M, Yetkin I.
DNA Cell Biol. 2013;32(11):635-9.
Metabolic acidosis
FBP1
c|DEL|658|T
Acidosis Acidosis, Lactic Base Sequence Child, Preschool Females Fructose-1,6-Bisphosphatase Fructose-1,6-Diphosphatase Deficiency Homo sapiens Hypoglycemia Male Molecular Sequence Data Mutation Sibling
2
(4.0%)		 23881342
 Transient pseudo-hypertriglyceridemia: a useful biochemical marker of fructose-1,6-bisphosphatase deficiency.
Afroze B, Yunus Z, Steinmann B, Santer R.
Eur J Pediatr. 2013;172(9):1249-53.
Metabolic acidosis
Acute Disease Biological Markers Child, Preschool DNA Helicases DNA-Binding Proteins Fructose-1,6-Diphosphatase Deficiency Genetic Markers Homo sapiens Homozygote Hypertriglyceridemia India Infant Male Missense Mutation Pakistan RNA-Binding Proteins Triglycerides
2
(4.0%)		 23585210
 Recurrent infantile hypoglycemia due to combined fructose-1,6-diphosphatase deficiency and growth hormone deficiency.
Takagi D, Ben-Ari J, Nemet D, Zeharia A, Eliakim A.
J Pediatr Endocrinol Metab. 2013;26(7-8):761-3.
Decreased response to growth hormone stimuation test
FBP1 GH1
Females Fructose-1,6-Diphosphatase Deficiency Glycogen Storage Disease Homo sapiens Human Growth Hormone Hypoglycemia Infant
2
(4.0%)		 20151204
 Fructose 1,6-bisphosphatase deficiency: enzyme and mutation analysis performed on calcitriol-stimulated monocytes with a note on long-term prognosis.
Asberg C, Hjalmarson O, Alm J, Martinsson T, Waldenstrom J, Hellerud C.
J Inherit Metab Dis. 2010;33 Suppl 3:S113-21.
Acidosis
AOPEP FBP1 FBP2
c|SUB|C|648|G c|SUB|G|778|A;RS#:780803192 c|SUB|G|881|A;RS#:780528686 p|SUB|G|260|R;RS#:780803192 p|SUB|G|294|E;RS#:780528686 p|SUB|Y|216|X
Adult Child Child, Preschool Cultured Cells DNA Mutational Analysis Fatal Outcome Females Fructose-1,6-Bisphosphatase Fructose-1,6-Diphosphatase Deficiency Genetic Predisposition to Disease Heredity Heterozygote Homo sapiens Infant Jejunum Male Monocytes Mutation Phenotype Predictive Value of Tests Time Factors
        

Phenotype(s) retrieved from Orphanet

    Total: 34

HPO ID Term Frequency
HP:0001942 Metabolic acidosis Very frequent (99-80%)
HP:0001943 Hypoglycemia Very frequent (99-80%)
HP:0003128 Lactic acidosis Very frequent (99-80%)
HP:0012379 Abnormal enzyme/coenzyme activity Very frequent (99-80%)
HP:0002013 Vomiting Frequent (79-30%)
HP:0002014 Diarrhea Frequent (79-30%)
HP:0002149 Hyperuricemia Frequent (79-30%)
HP:0003162 Fasting hypoglycemia Frequent (79-30%)
HP:0004913 Intermittent lactic acidemia Frequent (79-30%)
HP:0000737 Irritability Occasional (29-5%)
HP:0000980 Pallor Occasional (29-5%)
HP:0001249 Intellectual disability Occasional (29-5%)
HP:0001250 Seizures Occasional (29-5%)
HP:0001252 Muscular hypotonia Occasional (29-5%)
HP:0001259 Coma Occasional (29-5%)
HP:0001262 Excessive daytime somnolence Occasional (29-5%)
HP:0001397 Hepatic steatosis Occasional (29-5%)
HP:0001649 Tachycardia Occasional (29-5%)
HP:0001946 Ketosis Occasional (29-5%)
HP:0001998 Neonatal hypoglycemia Occasional (29-5%)
HP:0002094 Dyspnea Occasional (29-5%)
HP:0002098 Respiratory distress Occasional (29-5%)
HP:0002119 Ventriculomegaly Occasional (29-5%)
HP:0002240 Hepatomegaly Occasional (29-5%)
HP:0002329 Drowsiness Occasional (29-5%)
HP:0002876 Episodic tachypnea Occasional (29-5%)
HP:0002910 Elevated hepatic transaminase Occasional (29-5%)
HP:0003265 Neonatal hyperbilirubinemia Occasional (29-5%)
HP:0004372 Reduced consciousness/confusion Occasional (29-5%)
HP:0004879 Intermittent hyperventilation Occasional (29-5%)
HP:0005949 Apneic episodes in infancy Occasional (29-5%)
HP:0006582 Reye syndrome-like episodes Occasional (29-5%)
HP:0040301 Increased urinary glycerol Occasional (29-5%)
HP:0003348 Hyperalaninemia Very rare (4-1%)


Phenotype(s) retrieved from case reports

    Total: 11

HPO ID Term # of case reports
HP:0001943 Hypoglycemia 5
HP:0001941 Acidosis 2
HP:0003128 Lactic acidosis 2
HP:0000824 Growth hormone deficiency 1
HP:0001942 Metabolic acidosis 1
HP:0002155 Hypertriglyceridemia 1
HP:0002156 Homocystinuria 1
HP:0004914 Recurrent infantile hypoglycemia 1
HP:0005959 Impaired gluconeogenesis 1
HP:0008151 Prolonged prothrombin time 1
HP:0008288 Nonketotic hyperglycinemia 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
FBP1 fructose-bisphosphatase 1 2203