Metabolic epileptic disorders (Homo sapiens)
From WikiPathways
Description
A network pathway of nine metabolic epileptic disorders
Quality Tags
Ontology Terms
Bibliography
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- Tan M, Mosaoa R, Graham GT, Kasprzyk-Pawelec A, Gadre S, Parasido E, Catalina-Rodriguez O, Foley P, Giaccone G, Cheema A, Kallakury B, Albanese C, Yi C, Avantaggiati ML; ''Inhibition of the mitochondrial citrate carrier, Slc25a1, reverts steatosis, glucose intolerance, and inflammation in preclinical models of NAFLD/NASH.''; Cell Death Differ, 2020 PubMed Europe PMC Scholia
- Alonzo MartÃnez MC, Cazorla E, Cánovas E, Anniuk K, Cores AE, Serrano AM; ''Molybdenum Cofactor Deficiency: Mega Cisterna Magna in Two Consecutive Pregnancies and Review of the Literature.''; Appl Clin Genet, 2020 PubMed Europe PMC Scholia
- Mayr SJ, Mendel RR, Schwarz G; ''Molybdenum cofactor biology, evolution and deficiency.''; Biochim Biophys Acta Mol Cell Res, 2021 PubMed Europe PMC Scholia
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- Bennett MJ, Russell LK, Tokunaga C, Narayan SB, Tan L, Seegmiller A, Boriack RL, Strauss AW; ''Reye-like syndrome resulting from novel missense mutations in mitochondrial medium- and short-chain l-3-hydroxy-acyl-CoA dehydrogenase.''; Mol Genet Metab, 2006 PubMed Europe PMC Scholia
- Osman C, Foulds N, Hunt D, Jade Edwards C, Prevett M; ''Diagnosis of pyridoxine-dependent epilepsy in an adult presenting with recurrent status epilepticus.''; Epilepsia, 2020 PubMed Europe PMC Scholia
- Majd H, King MS, Smith AC, Kunji ERS; ''Pathogenic mutations of the human mitochondrial citrate carrier SLC25A1 lead to impaired citrate export required for lipid, dolichol, ubiquinone and sterol synthesis.''; Biochim Biophys Acta Bioenerg, 2018 PubMed Europe PMC Scholia
- ''''; https://www.wikipathways.org/pathways/WP534.html,
- Stone WL, Basit H, Jaishankar GB; ''Urea Cycle Disorders.''; , 2023 PubMed Europe PMC Scholia
- Wakazono A, Fukao T, Yamaguchi S, Hori T, Orii T, Lambert M, Mitchell GA, Lee GW, Hashimoto T; ''Molecular, biochemical, and clinical characterization of mitochondrial acetoacetyl-coenzyme A thiolase deficiency in two further patients.''; Hum Mutat, 1995 PubMed Europe PMC Scholia
- Saleem H, Simpson B; ''Biotinidase Deficiency.''; , 2023 PubMed Europe PMC Scholia
- Bricker DK, Taylor EB, Schell JC, Orsak T, Boutron A, Chen YC, Cox JE, Cardon CM, Van Vranken JG, Dephoure N, Redin C, Boudina S, Gygi SP, Brivet M, Thummel CS, Rutter J; ''A mitochondrial pyruvate carrier required for pyruvate uptake in yeast, Drosophila, and humans.''; Science, 2012 PubMed Europe PMC Scholia
- Kalhan SC, Hanson RW; ''Resurgence of serine: an often neglected but indispensable amino Acid.''; J Biol Chem, 2012 PubMed Europe PMC Scholia
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- Osmanovic A, Gogol I, Martens H, Widjaja M, Müller K, Schreiber-Katz O, Feuerhake F, Langhans CD, Schmidt G, Andersen PM, Ludolph AC, Weishaupt JH, Brand F, Petri S, Weber RG; ''Heterozygous DHTKD1 Variants in Two European Cohorts of Amyotrophic Lateral Sclerosis Patients.''; Genes (Basel), 2021 PubMed Europe PMC Scholia
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- Strovel ET, Cowan TM, Scott AI, Wolf B; ''Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics.''; Genet Med, 2017 PubMed Europe PMC Scholia
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- Leuzzi V, Mastrangelo M, Battini R, Cioni G; ''Inborn errors of creatine metabolism and epilepsy.''; Epilepsia, 2013 PubMed Europe PMC Scholia
- Kaminiów K, Pająk M, Pająk R, Paprocka J; ''Pyridoxine-Dependent Epilepsy and Antiquitin Deficiency Resulting in Neonatal-Onset Refractory Seizures.''; Brain Sci, 2021 PubMed Europe PMC Scholia
History
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External references
DataNodes
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Name | Type | Database reference | Comment |
---|---|---|---|
(R)-Lipoic acid | Metabolite | HMDB01451 (HMDB) | |
(S)-2,3,4,5-tetrahydropyridine -2-carboxylic acid | Metabolite | CHEBI:49014 (ChEBI) | |
1,3BP-Glycerate | Metabolite | HMDB0001270 (HMDB) | |
2-Ketobutyric acid | Metabolite | HMDB00005 (HMDB) | |
2-oxoglutarate | Metabolite | CHEBI:16810 (ChEBI) | |
2P-Glycerate | Metabolite | HMDB0000362 (HMDB) | |
3-Hydroxybutyryl-CoA | Metabolite | HMDB01166 (HMDB) | |
3-Sulfinylpyruvic acid | Metabolite | HMDB01405 (HMDB) | |
3P-Glycerate | Metabolite | HMDB0000807 (HMDB) | |
5,10-Methylene-THF | Metabolite | HMDB01533 (HMDB) | |
8-[(Aminomethyl)sulfanyl]-6- sulfanyloctanoic acid | Metabolite | HMDB13639 (HMDB) | |
AADAT | Protein | Q8N5Z0 (Uniprot-TrEMBL) | HomologyConvert: Homo sapiens to Bos taurus: Original ID = En:ENSG00000117009 |
AASS | GeneProduct | A4D0W4 (Uniprot-TrEMBL) | HomologyConvert: Homo sapiens to Bos taurus: Original ID = En:ENSG00000117009 |
ACAT1 | Protein | P24752 (Uniprot-TrEMBL) | |
ACO1 | Protein | P21399 (Uniprot-TrEMBL) | glucose-6-phosphate isomerase |
ADP | Metabolite | HMDB0001341 (HMDB) | |
ALDH7A1 | GeneProduct | ENSG00000164904 (Ensembl) | HomologyConvert: Homo sapiens to Bos taurus: Original ID = En:ENSG00000117009 |
ALDOA | GeneProduct | 226 (Entrez Gene) | |
ALDOB | GeneProduct | 229 (Entrez Gene) | |
ALDOC | GeneProduct | 230 (Entrez Gene) | |
AMP | Metabolite | HMDB0000045 (HMDB) | |
AMT | GeneProduct | 275 (Entrez Gene) | HomologyConvert: Homo sapiens to Bos taurus: Original ID = En:ENSG00000183077 |
ARG1 | GeneProduct | P05089 (Uniprot-TrEMBL) | HomologyConvert: Homo sapiens to Bos taurus: Original ID = En:ENSG00000117009 |
ASL | GeneProduct | P04424 (Uniprot-TrEMBL) | HomologyConvert: Homo sapiens to Bos taurus: Original ID = En:ENSG00000183077 |
ASS1 | GeneProduct | P00966 (Uniprot-TrEMBL) | HomologyConvert: Homo sapiens to Bos taurus: Original ID = En:ENSG00000117009 |
ATP | Metabolite | CHEBI:30616 (ChEBI) | |
ATP | Metabolite | HMDB0000538 (HMDB) | |
Acetoacetyl-CoA | Metabolite | HMDB01484 (HMDB) | |
Acetyl-CoA | Metabolite | HMDB0001206 (HMDB) | |
Allysine | Metabolite | HMDB01263 (HMDB) | |
Aminoadipic acid | Metabolite | HMDB00510 (HMDB) | |
Ammonia | Metabolite | HMDB00051 (HMDB) | |
Argininosuccinic acid | Metabolite | HMDB00052 (HMDB) | |
Aspartate | Metabolite | HMDB0000191 (HMDB) | |
Biocytin | Metabolite | HMDB0003134 (HMDB) | |
Biotin carboxyl carrier protein | Protein | Q42533 (Uniprot-TrEMBL) | |
Biotin | Metabolite | HMDB00030 (HMDB) | |
Biotinidase | Protein | P43251 (Uniprot-TrEMBL) | |
Biotinyl-5'-AMP | Metabolite | HMDB04220 (HMDB) | |
CBS | Protein | P35520 (Uniprot-TrEMBL) | |
CDO1 | Protein | Q16878 (Uniprot-TrEMBL) | |
CPS1 | GeneProduct | P31327 (Uniprot-TrEMBL) | HomologyConvert: Homo sapiens to Bos taurus: Original ID = En:ENSG00000117009 |
CTH | Protein | P32929 (Uniprot-TrEMBL) | |
Carbamoyl phosphate | Metabolite | HMDB01096 (HMDB) | |
Carbon dioxide | Metabolite | HMDB01967 (HMDB) | |
Citrulline | Metabolite | HMDB00904 (HMDB) | |
Coenzyme A | Metabolite | HMDB01423 (HMDB) | |
Creatine | Metabolite | CHEBI:16919 (ChEBI) | |
Crotonoyl-CoA | Metabolite | CHEBI:15473 (ChEBI) | |
Cysteine sulfinic acid | Metabolite | HMDB0250705 (HMDB) | |
Cysteine | Metabolite | CHEBI:15356 (ChEBI) | |
DHTKD1 | Protein | H7C1J3 (Uniprot-TrEMBL) | HomologyConvert: Homo sapiens to Bos taurus: Original ID = En:ENSG00000117009 |
DLAT | GeneProduct | 1737 (Entrez Gene) | |
DLD | GeneProduct | 1738 (Entrez Gene) | |
Dihydrolipoate | Metabolite | HMDB12210 (HMDB) | |
Dihydroxyacetone-P | Metabolite | HMDB0001473 (HMDB) | |
ECHS1 | Protein | P30084 (Uniprot-TrEMBL) | HomologyConvert: Homo sapiens to Bos taurus: Original ID = En:ENSG00000117009 |
ENO1 | GeneProduct | 2023 (Entrez Gene) | |
ENO2 | GeneProduct | 2026 (Entrez Gene) | |
ENO3 | GeneProduct | 2027 (Entrez Gene) | |
ETHE1 | Protein | O95571 (Uniprot-TrEMBL) | |
FAD | Metabolite | CHEBI:16238 (ChEBI) | HomologyConvert: Homo sapiens to Bos taurus: Original ID = En:ENSG00000103485 |
FBP1 | GeneProduct | 2203 (Entrez Gene) | |
FBP2 | GeneProduct | 8789 (Entrez Gene) | |
Fructose 6P (open) | Metabolite | CHEBI:57579 (ChEBI) | fructose-6-phosphate (2-) open form |
Fructose 6P | Metabolite | CHEBI:61527 (ChEBI) | |
Fructose-1,6BP | Metabolite | HMDB0001058 (HMDB) | |
Fumaric acid | Metabolite | HMDB00134 (HMDB) | |
G6PC | GeneProduct | 2538 (Entrez Gene) | Not present in brain and muscle, so those organs can not produce their own glucose in the gluconeogenesis pathway |
GAMT | GeneProduct | Q14353 (Uniprot-TrEMBL) | HomologyConvert: Homo sapiens to Bos taurus: Original ID = En:ENSG00000183077 |
GAPDH | GeneProduct | ENSG00000111640 (Ensembl) | |
GATM | Protein | P50440 (Uniprot-TrEMBL) | |
GCDH | Protein | Q92947 (Uniprot-TrEMBL) | HomologyConvert: Homo sapiens to Bos taurus: Original ID = En:ENSG00000117009 |
GCK | GeneProduct | 2645 (Entrez Gene) | Gck is mainly active in liver |
GLDC | GeneProduct | 2731 (Entrez Gene) | HomologyConvert: Homo sapiens to Bos taurus: Original ID = En:ENSG00000151790 |
GLDC | GeneProduct | P23378 (Uniprot-TrEMBL) | |
GLS2 | GeneProduct | Q9UI32 (Uniprot-TrEMBL) | HomologyConvert: Homo sapiens to Bos taurus: Original ID = En:ENSG00000183077 |
GLUD1 | GeneProduct | P00367 (Uniprot-TrEMBL) | HomologyConvert: Homo sapiens to Bos taurus: Original ID = En:ENSG00000172890 |
GOT1 | GeneProduct | 2805 (Entrez Gene) | |
GOT2 | GeneProduct | 2806 (Entrez Gene) | |
GPHN | GeneProduct | ENSG00000171723 (Ensembl) | |
GPI | GeneProduct | 2821 (Entrez Gene) | glucose-6-phosphate isomerase |
GPT | Protein | P24298 (Uniprot-TrEMBL) | |
GTP | Metabolite | CHEBI:37565 (ChEBI) | |
Glucose-6P (open) | Metabolite | CHEBI:57584 (ChEBI) | D-Glucose-6-Phosphate (2-) open form |
Glucose-6P | Metabolite | CHEBI:75052 (ChEBI) | Glucose-6-Phosphate (2-) |
Glucose | Metabolite | HMDB0000122 (HMDB) | |
Glutaryl-CoA | Metabolite | CHEBI:15524 (ChEBI) | |
Glutathione perfsulfide | Metabolite | CHEBI:58905 (ChEBI) | |
Glyceraldehyde 3P | Metabolite | HMDB0001112 (HMDB) | |
Glycine | Metabolite | HMDB0000123 (HMDB) | |
Guanidoacetic acid | Metabolite | HMDB00128 (HMDB) | |
HADH | Protein | Q16836 (Uniprot-TrEMBL) | HomologyConvert: Homo sapiens to Bos taurus: Original ID = En:ENSG00000117009 |
HK1 | GeneProduct | 3098 (Entrez Gene) | |
HK2 | GeneProduct | 3099 (Entrez Gene) | |
HK3 | GeneProduct | 3101 (Entrez Gene) | |
HLCS | GeneProduct | P50747 (Uniprot-TrEMBL) | HomologyConvert: Homo sapiens to Bos taurus: Original ID = En:ENSG00000117009 |
Homocysteine | Metabolite | HMDB00742 (HMDB) | |
Hydrogen Ion | Metabolite | HMDB0059597 (HMDB) | |
Hydrogen peroxide | Metabolite | HMDB03125 (HMDB) | |
Hydrogen sulfide | Metabolite | HMDB03276 (HMDB) | |
L-Glutamic acid | Metabolite | HMDB00148 (HMDB) | |
L-Glutamine | Metabolite | HMDB00641 (HMDB) | |
L-Pipecolic acid | Metabolite | HMDB00716 (HMDB) | |
L-alanine | Metabolite | CHEBI:16977 (ChEBI) | |
L-arginine | Metabolite | CHEBI:29952 (ChEBI) | |
L-aspartic acid | Metabolite | CHEBI:17053 (ChEBI) | |
L-cystathionine | Metabolite | CHEBI:17482 (ChEBI) | |
L-cysteine | Metabolite | CHEBI:17561 (ChEBI) | |
L-glutamic acid | Metabolite | CHEBI:16015 (ChEBI) | |
L-lysine | Metabolite | CHEBI:18019 (ChEBI) | |
L-lysine | Metabolite | CHEBI:29967 (ChEBI) | |
L-serine | Metabolite | CHEBI:33384 (ChEBI) | |
LDHA | GeneProduct | 3939 (Entrez Gene) | |
LDHAL6B | GeneProduct | 92483 (Entrez Gene) | |
LDHB | GeneProduct | 3945 (Entrez Gene) | |
LDHC | GeneProduct | 3948 (Entrez Gene) | |
Lactate | Metabolite | HMDB0000190 (HMDB) | |
MDH1 | GeneProduct | 4190 (Entrez Gene) | |
MDH2 | GeneProduct | 4191 (Entrez Gene) | |
MOCS1 | GeneProduct | ENSG00000124615 (Ensembl) | |
MOCS2 | GeneProduct | ENSG00000164172 (Ensembl) | |
MOCS3 | GeneProduct | ENSG00000124217 (Ensembl) | |
MPC1 | GeneProduct | 51660 (Entrez Gene) | |
MPC2 | GeneProduct | 25874 (Entrez Gene) | |
Malate | Metabolite | HMDB0000744 (HMDB) | |
Metabolite | Metabolite | ||
MoCo | Metabolite | CHEBI:60525 (ChEBI) | |
NADH | Metabolite | CHEBI:16908 (ChEBI) | |
NADH | Metabolite | HMDB01487 (HMDB) | |
NAD | Metabolite | HMDB0000902 (HMDB) | |
NAD | Metabolite | HMDB00902 (HMDB) | |
NADPH | Metabolite | HMDB0000221 (HMDB) | |
NADP | Metabolite | HMDB0000217 (HMDB) | |
OTC | GeneProduct | P00480 (Uniprot-TrEMBL) | HomologyConvert: Homo sapiens to Bos taurus: Original ID = En:ENSG00000172890 |
Ornithine | Metabolite | HMDB00214 (HMDB) | |
Orotidylic acid | Metabolite | HMDB00218 (HMDB) | |
Oxaloacetate | Metabolite | HMDB0000223 (HMDB) | |
Oxoadipic acid | Metabolite | HMDB00225 (HMDB) | |
Oxoglutaric acid | Metabolite | CHEBI:30915 (ChEBI) | |
Oxoglutaric acid | Metabolite | HMDB00208 (HMDB) | |
Oxygen | Metabolite | CHEBI:25805 (ChEBI) | |
P-enolpyruvate | Metabolite | HMDB0000263 (HMDB) | |
PC | GeneProduct | 5091 (Entrez Gene) | |
PCK1 | GeneProduct | 5105 (Entrez Gene) | |
PDHA1 | GeneProduct | 5160 (Entrez Gene) | |
PFKL | GeneProduct | 5211 (Entrez Gene) | |
PFKM | GeneProduct | 5213 (Entrez Gene) | |
PFKP | GeneProduct | 5214 (Entrez Gene) | |
PGAM1 | GeneProduct | 5223 (Entrez Gene) | |
PGAM2 | GeneProduct | 5224 (Entrez Gene) | |
PGI | GeneProduct | 5.3.1.9 (Enzyme Nomenclature) | phosphoglucose isomerase (PGI) |
PGK1 | GeneProduct | 5230 (Entrez Gene) | |
PGK2 | GeneProduct | 5232 (Entrez Gene) | |
PHGDH | Protein | O43175 (Uniprot-TrEMBL) | |
PKLR | GeneProduct | 5313 (Entrez Gene) | |
PKM1 | GeneProduct | 5315 (Entrez Gene) | |
PKM2 | GeneProduct | 5315 (Entrez Gene) | |
PSAT1 | Protein | Q9Y617 (Uniprot-TrEMBL) | |
PSPH | Protein | P78330 (Uniprot-TrEMBL) | |
Phosphate | Metabolite | HMDB0002142 (HMDB) | |
Phosphate | Metabolite | HMDB01429 (HMDB) | |
Phosphohydroxypyruvic acid | Metabolite | HMDB01024 (HMDB) | |
Phosphoric acid | Metabolite | HMDB0002142 (HMDB) | |
Phosphoserine | Metabolite | CHEBI:15811 (ChEBI) | |
Pyridoxal 5'-phosphate | Metabolite | HMDB01491 (HMDB) | |
Pyrophosphate | Metabolite | HMDB00250 (HMDB) | |
Pyruvate | Metabolite | HMDB0000243 (HMDB) | |
S-Adenosylhomocysteine | Metabolite | HMDB00939 (HMDB) | |
S-Adenosylmethionine | Metabolite | HMDB01185 (HMDB) | |
SFXN1 | GeneProduct | ENSG00000164466 (Ensembl) | HomologyConvert: Homo sapiens to Bos taurus: Original ID = En:ENSG00000183077 |
SHMT1 | GeneProduct | ENSG00000176974 (Ensembl) | HomologyConvert: Homo sapiens to Bos taurus: Original ID = En:ENSG00000183077 |
SHMT2 | GeneProduct | ENSG00000182199 (Ensembl) | HomologyConvert: Homo sapiens to Bos taurus: Original ID = En:ENSG00000183077 |
SLC1A5 | GeneProduct | Q15758 (Uniprot-TrEMBL) | |
SLC25A15 | GeneProduct | Q9Y619 (Uniprot-TrEMBL) | |
SLC25A1 | Protein | P53007 (Uniprot-TrEMBL) | |
SLC25A5 | Protein | P05141 (Uniprot-TrEMBL) | |
SLC2A1 | GeneProduct | 6513 (Entrez Gene) | |
SLC2A2 | GeneProduct | 6514 (Entrez Gene) | |
SLC2A3 | GeneProduct | 6515 (Entrez Gene) | |
SLC2A4 | GeneProduct | 6517 (Entrez Gene) | |
SLC2A5 | GeneProduct | 6518 (Entrez Gene) | |
SLC7A2 | Protein | P52569 (Uniprot-TrEMBL) | |
SPCS1 | GeneProduct | Q9Y6A9 (Uniprot-TrEMBL) | |
SQOR | Protein | Q9Y6N5 (Uniprot-TrEMBL) | |
SUOX | Protein | P51687 (Uniprot-TrEMBL) | |
Saccharopine | Metabolite | HMDB00279 (HMDB) | |
Sulfate | Metabolite | HMDB0001448 (HMDB) | |
TCA Cycle | Pathway | WP78 (WikiPathways) | |
TPI1 | GeneProduct | 7167 (Entrez Gene) | |
Urea | Metabolite | CHEBI:16199 (ChEBI) | |
Uric acid | Metabolite | CHEBI:17775 (ChEBI) | |
Water | Metabolite | HMDB0002111 (HMDB) | |
Water | Metabolite | HMDB02111 (HMDB) | |
XDH | Protein | P47989 (Uniprot-TrEMBL) | |
citrate | Metabolite | CHEBI:16947 (ChEBI) | |
hypoxanthine | Metabolite | CHEBI:17368 (ChEBI) | |
sulfite | Metabolite | CHEBI:17359 (ChEBI) | |
xanthine | Metabolite | CHEBI:15318 (ChEBI) | |
zinc | Metabolite | CHEBI:27363 (ChEBI) |
Annotated Interactions
No annotated interactions