Page last updated: 2024-09-28

Deficiency, Hexosediphosphatase

An autosomal recessive fructose metabolism disorder due to absent or deficient fructose-1,6-diphosphatase activity. Gluconeogenesis is impaired, resulting in accumulation of gluconeogenic precursors (e.g., amino acids, lactate, ketones) and manifested as hypoglycemia, ketosis, and lactic acidosis. Episodes in the newborn infant are often lethal. Later episodes are often brought on by fasting and febrile infections. As patients age through early childhood, tolerance to fasting improves and development becomes normal.

Synonyms(7)

Synonym
Fructosediphosphatase Deficiency
Deficiency, Hexosediphosphatase
Fructose-Biphosphatase Deficiency
Fructose-1,6-Bisphosphatase Deficiency
Hexosediphosphatase Deficiency
Fructose-1,6-Diphosphatase Deficiency
Fructose 1,6 Diphosphatase Deficiency

Research

Studies (64)

TimeframeStudies, This Condition (%)All Conditions %
pre-199031 (48.44)23.3326
1990's10 (15.63)12.5806
2000's4 (6.25)18.1394
2010's11 (17.19)28.8240
2020's8 (12.50)9.53
DrugIndicatedRelationship StrengthStudiesTrials
ammonium hydroxide0low20
citric acid, anhydrous0low10
3-hydroxybutyric acid0low10
methylmalonic acid0low10
lactic acid0low20
dihydroxyacetone0low10
3-phosphoglycerate0low10
glycine0low10
glyceraldehyde0low10
glycerol0low90
alpha-glycerophosphoric acid0low20
hydrogen carbonate0low30
pyruvic acid0low10
thiamine0low10
uric acid0low40
urea0low10
diazoxide0low10
sorbitol0low20
alanine0low40
sucrose0low10
galactose0low50
edetic acid0low10
tyrosine0low20
adenosine monophosphate0low10
methylene blue0low10
leucine0low20
methionine0low10
phenylalanine0low10
histidine0low10
valine0low10
isoleucine0low10
tromethamine0low10
uridine diphosphate galactose0low10
chromium0low10
fructose-1-phosphate0medium11
fructose 2,6-diphosphate0low10
valerates0low10
glycogen0low40
D-fructopyranose0medium211
calcitriol0low20
phosphorus0medium31
phosphocreatine0medium11
cystathionine0low10
glucagon0low40
fructose-1,6-diphosphate0low20
folic acid0low40

Protein Targets (436)

ProteinPotency MeasurementsInhibition MeasurementsActivation MeasurementsDrugs
Protein skinhead-10101
Monocarboxylate transporter 20202
Solute carrier family 22 member 200202
Solute carrier family 22 member 60202
Chain A, Glycogen Phosphorylase B0011
Chain B, Glycogen Phosphorylase B0011
Chain A, ADP-dependent glucokinase0101
Chain A, Ribonuclease pancreatic0101
Chain A, Ribonuclease pancreatic0101
Chain A, phosphodiesterase-nucleotide pyrophosphatase0101
Chain A, GLYCOGEN PHOSPHORYLASE B0011
Chain B, GLYCOGEN PHOSPHORYLASE B0011
Chain A, GLYCOGEN PHOSPHORYLASE B0011
RAR-related orphan receptor gamma6006
AR protein8008
regulator of G-protein signaling 42002
glucocorticoid receptor [Homo sapiens]4004
estrogen-related nuclear receptor alpha6006
euchromatic histone-lysine N-methyltransferase 27007
v-jun sarcoma virus 17 oncogene homolog (avian)5005
2'-deoxynucleoside 5'-phosphate N-hydrolase 10101
Mitogen-activated protein kinase kinase kinase 70011
2'-deoxynucleoside 5'-phosphate N-hydrolase 10101
5'-AMP-activated protein kinase subunit beta-20011
Transient receptor potential cation channel subfamily M member 20101
Alcohol dehydrogenase E chain0101
Alcohol dehydrogenase S chain0101
L-lactate dehydrogenase A chain0112
Adenylate kinase isoenzyme 10001
Fructose-1,6-bisphosphatase 10101
Alkaline phosphatase, tissue-nonspecific isozyme0203
Fructose-1,6-bisphosphatase 10101
2-dehydropantoate 2-reductase0112
Inosine-5'-monophosphate dehydrogenase0101
Cytochrome P450 2C9 0203
Proto-oncogene tyrosine-protein kinase Src0202
Amine oxidase [flavin-containing] B0101
5'-nucleotidase0001
Choline O-acetyltransferase0101
Adenylate kinase 2, mitochondrial0102
GTP:AMP phosphotransferase AK3, mitochondrial0001
Adenosine receptor A10011
Adenylate kinase isoenzyme 1 0102
P2Y purinoceptor 20011
P2Y purinoceptor 10011
P2Y purinoceptor 10011
5'-AMP-activated protein kinase subunit gamma-10022
5'-AMP-activated protein kinase catalytic subunit alpha-20011
Adenylate kinase 2, mitochondrial0001
Glycine--tRNA ligase0101
5'-AMP-activated protein kinase catalytic subunit alpha-10022
Adenosine deaminase-like protein0001
Protease 0112
P2Y purinoceptor 110011
Histamine H3 receptor0101
5'-AMP-activated protein kinase subunit gamma-30011
5'-AMP-activated protein kinase subunit gamma-20011
5'-AMP-activated protein kinase subunit beta-10022
ATP-dependent phosphofructokinase2002
Chain A, MAJOR APURINIC/APYRIMIDINIC ENDONUCLEASE5005
Chain A, TYROSYL-DNA PHOSPHODIESTERASE5005
Carbonic anhydrase 10207
Carbonic anhydrase 20319
Alanine racemase, biosynthetic0001
5-hydroxytryptamine receptor 1D0002
Glutamate receptor ionotropic, NMDA 1 0317
Proton-coupled amino acid transporter 10405
Adenosine deaminase0001
Carbonic anhydrase 40002
Chain A, Vitamin D Nuclear Receptor0011
Chain A, Beta-lactamase3003
Chain A, Ferritin light chain4004
Vitamin D3 receptor0011
USP1 protein, partial3003
PPM1D protein2002
Microtubule-associated protein tau2002
thioredoxin glutathione reductase2002
mitogen-activated protein kinase 12002
nuclear receptor ROR-gamma isoform 12002
geminin5005
peripheral myelin protein 224004
ATP-binding cassette sub-family C member 30202
Multidrug resistance-associated protein 40203
Bile salt export pump0303
Interferon beta2002
Vitamin D-binding protein0011
Cytochrome P450 1A20001
Cytochrome P450 3A40203
Androgen receptor0101
Cytochrome P450 2D60101
Vitamin D3 receptor0124
Vitamin D3 receptor0113
Retinoic acid receptor RXR-alpha0011
Cytochrome P450 2C190101
Kappa-type opioid receptor0011
Vitamin D3 receptor0011
1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial0011
Vitamin D3 receptor0112
Transporter0101
Canalicular multispecific organic anion transporter 10202
Vitamin D3 receptor A0022
Chain A, Proto-oncogene Tyrosine-protein Kinase Src0101
Chain A, Proto-oncogene Tyrosine-protein Kinase Src0101
Chain A, Proto-oncogene Tyrosine-protein Kinase Src0101
Chain A, Proto-oncogene Tyrosine-protein Kinase Src0101
Chain A, Proto-oncogene Tyrosine-protein Kinase Src0101
Chain A, Proto-oncogene Tyrosine-protein Kinase Src0101
Chain A, Proto-oncogene Tyrosine-protein Kinase Src0101
Chain A, Proto-oncogene Tyrosine-protein Kinase Src0101
Chain A, Proto-oncogene Tyrosine-protein Kinase Src0101
Chain A, Proto-oncogene Tyrosine-protein Kinase Src0101
Chain A, Proto-oncogene Tyrosine-protein Kinase Src0101
Chain A, Proto-oncogene Tyrosine-protein Kinase Src0101
Chain A, Proto-oncogene Tyrosine-protein Kinase Src0101
Chain A, Proto-oncogene Tyrosine-protein Kinase Src0101
Chain A, Proto-oncogene Tyrosine-protein Kinase Src0101
Chain A, Proto-oncogene Tyrosine-protein Kinase Src0101
Chain A, Proto-oncogene Tyrosine-protein Kinase Src0101
Chain A, Proto-oncogene Tyrosine-protein Kinase Src0101
Chain A, Proto-oncogene Tyrosine-protein Kinase Src0101
Chain A, Proto-oncogene Tyrosine-protein Kinase Src0101
Chain A, Proto-oncogene Tyrosine-protein Kinase Src0101
Chain A, Proto-oncogene Tyrosine-protein Kinase Src0101
Chain A, Proto-oncogene Tyrosine-protein Kinase Src0101
Chain A, Proto-oncogene Tyrosine-protein Kinase Src0101
Chain A, Proto-oncogene Tyrosine-protein Kinase Src0101
Chain A, Proto-oncogene Tyrosine-protein Kinase Src0101
Chain A, N5-carboxyaminoimidazole ribonucleotide mutase0011
Chain B, N5-carboxyaminoimidazole ribonucleotide mutase0011
Chain A, N5-carboxyaminoimidazole ribonucleotide mutase0011
Chain B, N5-carboxyaminoimidazole ribonucleotide mutase0011
Chain A, JmjC domain-containing histone demethylation protein 3A3003
GLI family zinc finger 37007
aldehyde dehydrogenase 1 family, member A16006
nuclear receptor subfamily 1, group I, member 34004
farnesoid X nuclear receptor3003
estrogen nuclear receptor alpha140014
peroxisome proliferator activated receptor gamma2002
hepatocyte nuclear factor 4-alpha isoform 20101
perilipin-50101
thyroid hormone receptor beta isoform a5005
perilipin-10101
nuclear factor erythroid 2-related factor 2 isoform 18008
1-acylglycerol-3-phosphate O-acyltransferase ABHD5 isoform a0101
Beta-lactamase0101
3-dehydroquinate dehydratase0011
ATP-citrate synthase 0001
Ribonuclease T0001
Cell death-related nuclease 40001
3-dehydroquinate dehydratase0011
Prolyl 4-hydroxylase0202
Alpha-ketoglutarate-dependent dioxygenase FTO0202
ATAD5 protein, partial3003
GLS protein1001
TDP1 protein2002
thyroid stimulating hormone receptor2002
cytochrome P450 2D6 isoform 11001
D(1A) dopamine receptor1001
importin subunit beta-1 isoform 13003
snurportin-13003
GTP-binding nuclear protein Ran isoform 12002
survival motor neuron protein isoform d2002
cytochrome P450 3A4 isoform 12002
histone acetyltransferase KAT2A isoform 14004
lamin isoform A-delta104004
Gamma-aminobutyric acid receptor subunit pi2002
Coagulation factor VII0101
Tissue factor0101
Gamma-aminobutyric acid receptor subunit beta-12002
Gamma-aminobutyric acid receptor subunit delta2002
Gamma-aminobutyric acid receptor subunit gamma-22002
Glutamate receptor 10002
Glutamate receptor 23005
Glutamate receptor 30002
Glutamate receptor 40002
Gamma-aminobutyric acid receptor subunit alpha-52002
Gamma-aminobutyric acid receptor subunit alpha-32002
Gamma-aminobutyric acid receptor subunit gamma-12002
Gamma-aminobutyric acid receptor subunit alpha-22002
Gamma-aminobutyric acid receptor subunit alpha-42002
Gamma-aminobutyric acid receptor subunit gamma-32002
Gamma-aminobutyric acid receptor subunit alpha-62002
Nicotinamide phosphoribosyltransferase0011
Gamma-aminobutyric acid receptor subunit alpha-12002
Gamma-aminobutyric acid receptor subunit beta-32002
Gamma-aminobutyric acid receptor subunit beta-22002
ATP-binding cassette sub-family C member 80112
ATP-sensitive inward rectifier potassium channel 110112
GABA theta subunit2002
Gamma-aminobutyric acid receptor subunit epsilon2002
hypoxia-inducible factor 1 alpha subunit2002
progesterone receptor3003
retinoic acid nuclear receptor alpha variant 16006
Histone H2A.x3003
Eyes absent homolog 20101
Polyunsaturated fatty acid lipoxygenase ALOX15B1001
Voltage-dependent calcium channel gamma-2 subunit3003
Cellular tumor antigen p536006
Amyloid-beta precursor protein0202
Angiotensin-converting enzyme 0101
Histamine H2 receptor1001
Metallo-beta-lactamase VIM-130101
Beta-lactamase 0101
Beta-lactamase 0101
Beta-lactamase VIM-1 0101
Chain A, Dihydrofolate reductase0011
Chain A, Putative fructose-1,6-bisphosphate aldolase2002
Chain A, HADH2 protein2002
Chain B, HADH2 protein2002
Chain A, 2-oxoglutarate Oxygenase2002
acid sphingomyelinase1001
glp-1 receptor, partial2002
retinoid X nuclear receptor alpha4004
glucocerebrosidase1001
vitamin D (1,25- dihydroxyvitamin D3) receptor3003
alpha-galactosidase1001
activating transcription factor 63003
lysosomal alpha-glucosidase preproprotein1001
15-hydroxyprostaglandin dehydrogenase [NAD(+)] isoform 11001
nuclear factor erythroid 2-related factor 2 isoform 22002
DNA polymerase beta2002
Thymidylate synthase0202
Thymidylate synthase0101
Dihydrofolate reductase0011
Aldo-keto reductase family 1 member B10203
Alpha-synuclein2002
Folylpolyglutamate synthase, mitochondrial0001
Solute carrier organic anion transporter family member 1A30101
Folylpolyglutamate synthase, mitochondrial0001
Multidrug resistance associated protein0001
IDH12002
chromobox protein homolog 13003
DNA polymerase kappa isoform 12002
Beta-galactosidase0101
Lipopolysaccharide heptosyltransferase 10101
PA-I galactophilic lectin0011
Jacalin0011
Aldo-keto reductase family 1 member B100002
Chain B, EUKARYOTIC TRANSLATION INITIATION FACTOR 4E0011
peroxisome proliferator-activated receptor delta3003
thyroid hormone receptor beta isoform 23003
Glycine receptor subunit alpha-10011
Sodium- and chloride-dependent GABA transporter 20101
Sodium- and chloride-dependent GABA transporter 30101
Sodium- and chloride-dependent glycine transporter 10101
Glutamate receptor ionotropic, NMDA 2A 0216
Glutamate receptor ionotropic, NMDA 2B0216
Glutamate receptor ionotropic, NMDA 2C0216
Large neutral amino acids transporter small subunit 10809
Glutamate receptor ionotropic, NMDA 2D0216
Glutamate receptor ionotropic, NMDA 3B0216
Serine racemase0101
Olfactory receptor 51E20022
Glutamate receptor ionotropic, NMDA 3A0216
Sodium- and chloride-dependent glycine transporter 20101
Chain A, Cruzipain1001
Albumin0101
Voltage-dependent L-type calcium channel subunit alpha-1C0101
Chain A, HISTIDINE-BINDING PROTEIN0011
Chain E, LYSINE, ARGININE, ORNITHINE-BINDING PROTEIN0011
Chain E, LYSINE, ARGININE, ORNITHINE-BINDING PROTEIN0011
Chain E, LYSINE, ARGININE, ORNITHINE-BINDING PROTEIN0011
flap endonuclease 13003
Carbonic anhydrase 120003
Plasma kallikrein0003
Carbonic anhydrase 30003
Histidine-binding periplasmic protein0011
Carbonic anhydrase 40104
Carbonic anhydrase 60104
Adenosine receptor A10003
Adenosine receptor A2a0003
Carbonic anhydrase 5A, mitochondrial0003
Carbonic anhydrase0104
Carbonic anhydrase 70003
Carbonic anhydrase0003
Glutaminyl-peptide cyclotransferase0101
Carbonic anhydrase 90115
Carbonic anhydrase 0003
Carbonic anhydrase-like protein, putative0003
Carbonic anhydrase0003
Carbonic anhydrase0003
Carbonic anhydrase 0003
Carbonic anhydrase 130002
Carbonic anhydrase 150104
Carbonic anhydrase 130002
Carbonic anhydrase 140003
Carbonic anhydrase 5B, mitochondrial0003
acetylcholinesterase3003
estrogen receptor 2 (ER beta)2002
cytochrome P450 family 3 subfamily A polypeptide 43003
cytochrome P450 2D62002
thyroid stimulating hormone receptor2002
cellular tumor antigen p53 isoform a1001
Integrin beta-31001
Integrin alpha-IIb1001
Chain A, AMINOPEPTIDASE0202
Chain A, AMINOPEPTIDASE0202
Chain A, Leucine Aminopeptidase0101
Intestinal-type alkaline phosphatase0202
Phospholipase A-2-activating protein0202
Chain A, Methionyl-tRNA synthetase0011
Chain A, Methionyl-tRNA synthetase0011
Chain A, Aminopeptidase0101
Chain A, Methionine aminopeptidase0101
S-ribosylhomocysteine lyase0101
Adenylate cyclase type 50001
S-adenosylmethionine synthase isoform type-10001
S-adenosylmethionine synthase isoform type-20001
Fatty acid synthase0101
Chain E, Fibrin beta chain0101
Chain A, ATP-DEPENDENT DNA HELICASE Q11001
Luciferase3003
T cell receptor, partial1001
luteinizing hormone receptor1001
integrase, partial0101
chaperonin-containing TCP-1 beta subunit homolog1001
lens epithelium-derived growth factor p750101
phosphopantetheinyl transferase1001
Caspase 6, apoptosis-related cysteine peptidase0001
SMAD family member 21001
Fumarate hydratase1001
SMAD family member 31001
TSHR protein1001
Apoptotic peptidase activating factor 10101
Smad31001
caspase 7, apoptosis-related cysteine protease2002
hypothetical protein, conserved1001
isocitrate dehydrogenase 1, partial1001
pregnane X nuclear receptor4004
G1001
polyprotein1001
luciferase1001
bromodomain adjacent to zinc finger domain 2B1001
caspase-32002
aryl hydrocarbon receptor1001
cytochrome P450, family 19, subfamily A, polypeptide 1, isoform CRA_a1001
nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (p105), isoform CRA_a1001
serine-protein kinase ATM isoform a1001
Bloom syndrome protein isoform 11001
neutrophil cytosol factor 10101
parathyroid hormone/parathyroid hormone-related peptide receptor precursor1001
caspase-9 isoform alpha precursor0101
histone deacetylase 9 isoform 31001
heat shock protein beta-11001
huntingtin isoform 21001
pyruvate kinase PKM isoform a1001
caspase-3 isoform a preproprotein0101
protein AF-9 isoform a0001
histone-lysine N-methyltransferase 2A isoform 2 precursor1001
peptidyl-prolyl cis-trans isomerase NIMA-interacting 12002
DNA polymerase eta isoform 11001
DNA polymerase iota isoform a (long)2002
urokinase-type plasminogen activator precursor1001
plasminogen precursor1001
urokinase plasminogen activator surface receptor precursor1001
Vpr1001
muscleblind-like protein 1 isoform 11001
replicative DNA helicase0001
recombinase A0011
POsterior Segregation0011
DNA repair protein RAD52 homolog isoform a0001
neuropeptide S receptor isoform A1001
Glutathione reductase0101
Glutathione reductase, mitochondrial0102
Glycoprotein hormones alpha chain1001
HLA class I histocompatibility antigen, B alpha chain 1001
Albumin0001
Dihydrolipoyl dehydrogenase, mitochondrial0102
Microtubule-associated protein tau0112
Alpha-1B adrenergic receptor0101
Amine oxidase [flavin-containing] A0101
Alpha-1D adrenergic receptor0101
Sodium-dependent noradrenaline transporter 0011
Cruzipain0101
Alpha-1A adrenergic receptor0101
Spike glycoprotein2002
Guanine nucleotide-binding protein G2002
Inositol monophosphatase 11001
TAR DNA-binding protein 431001
Thioredoxin reductase 1, cytoplasmic0102
Dihydrolipoyl dehydrogenase 0102
Inositol hexakisphosphate kinase 11001
ATPase family AAA domain-containing protein 51001
Ataxin-21001
Zinc finger protein mex-50011
cytochrome P450 2C9, partial1001
phosphoglycerate kinase1001
tumor susceptibility gene 101 protein1001
Serine racemase0101
Voltage-dependent calcium channel subunit alpha-2/delta-10101
Alkaline phosphatase, tissue-nonspecific isozyme 0101
Intestinal-type alkaline phosphatase0101
5'-nucleotidase0101
E3 ubiquitin-protein ligase XIAP0101
SLC16A10 protein0002
Large neutral amino acids transporter small subunit 1 0101
Monocarboxylate transporter 100002
Monocarboxylate transporter 40001
Monocarboxylate transporter 20001
Monocarboxylate transporter 10001
C-terminal-binding protein 20101
Solute carrier organic anion transporter family member 2A10101
Chain A, MALTOPORIN0011
Chain B, MALTOPORIN0011
Chain A, ykoF0011
Chain B, ykoF0011
Chain A, ThiT0011
Thiamine transporter ThiT0011
Solute carrier family 22 member 1 0102
Transketolase0011
Thiamine-binding periplasmic protein0011
Solute carrier family 22 member 10101
Solute carrier family 22 member 20101
Chain A, CARBONIC ANHYDRASE II0101
Chain A, CHORISMATE MUTASE0101
Chain A, TYROSYL-tRNA SYNTHETASE0011
Polyphenol oxidase 20001
Tubulin--tyrosine ligase0101
Taste receptor type 2 member 140001
lethal factor (plasmid)1001
Rap guanine nucleotide exchange factor 31001
Urease subunit alpha0101
Urease subunit beta0101
Chain A, Glycogen phosphorylase, liver form0011
Chain A, glycogen phosphorylase, liver form0011
Chain A, Glycogen phosphorylase, liver form0011
Chain A, Glycogen phosphorylase, liver form0011
Solute carrier family 22 member 60001
Solute carrier family 22 member 80101
Solute carrier family 2, facilitated glucose transporter member 90112
Guanine deaminase0101
Beta-1,4-galactosyltransferase 1 0001
N-acetyllactosaminide alpha-1,3-galactosyltransferase0001
P2Y purinoceptor 140011
Carbonic anhydrase0101
Chain A, Arginase 10101
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]