MCID: LCT001
MIFTS: 51

Lactic Acidosis

Categories: Metabolic diseases, Rare diseases
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Aliases & Classifications for Lactic Acidosis

MalaCards integrated aliases for Lactic Acidosis:

Name: Lactic Acidosis 11 28 5 14 16 75
Acidosis, Lactic 43 71
Acidosis Lactic 53

Classifications:



External Ids:

Disease Ontology 11 DOID:3650
MeSH 43 D000140
NCIt 49 C98969
SNOMED-CT 68 91273001
ICD10 31 E87.2
UMLS 71 C0001125

Summaries for Lactic Acidosis

Disease Ontology: 11 A metabolic acidosis characterized by buildup of lactate.

MalaCards based summary: Lactic Acidosis, also known as acidosis, lactic, is related to mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes and pyruvate dehydrogenase e1-alpha deficiency. An important gene associated with Lactic Acidosis is NDUFS4 (NADH:Ubiquinone Oxidoreductase Subunit S4), and among its related pathways/superpathways are Metabolism and glycolysis (BioCyc). The drugs Stavudine and Metformin have been mentioned in the context of this disorder. Affiliated tissues include liver, heart and skeletal muscle, and related phenotype is mortality/aging.

Wikipedia: 75 Lactic acidosis is a medical condition characterized by a build-up of lactate (especially L-lactate) in... more...

Related Diseases for Lactic Acidosis

Diseases in the Lactic Acidosis family:

Lactic Acidosis, Chronic Adult Form Lactic Acidosis Congenital Infantile

Diseases related to Lactic Acidosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 805)
# Related Disease Score Top Affiliating Genes
1 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 33.8 YARS2 POLG NDUFS4 MT-ND4 MT-ND1
2 pyruvate dehydrogenase e1-alpha deficiency 33.6 POLG PDHX PDHA1 PC
3 myopathy, lactic acidosis, and sideroblastic anemia 1 33.5 YARS2 PUS1
4 mitochondrial dna depletion syndrome 9 33.4 SUCLG1 NDUFS4 MT-ND1
5 myopathy, lactic acidosis, and sideroblastic anemia 2 33.3 YARS2 KARS1
6 myopathy, lactic acidosis, and sideroblastic anemia 3 33.2 YARS2 PUS1
7 myopathy, lactic acidosis, and sideroblastic anemia 33.0 YARS2 PUS1
8 mitochondrial myopathy 32.8 YARS2 SUCLG1 PUS1 POLG NDUFS4 MT-ND4
9 pearson marrow-pancreas syndrome 32.6 YARS2 PUS1 POLG MT-ND4 MT-ND1
10 mitochondrial complex i deficiency, nuclear type 1 32.6 UQCRFS1 POLG PDHA1 NDUFS4 NDUFA13 MT-ND4
11 pyruvate dehydrogenase e3-binding protein deficiency 32.5 PDHX PDHA1 DLD
12 leigh syndrome 32.4 UQCRFS1 SUCLG1 PUS1 POLG PDP1 PDHX
13 mitochondrial dna-associated leigh syndrome 32.3 MT-ND4 MT-ND1
14 mitochondrial dna depletion syndrome 32.3 SUCLG1 POLG NDUFS4 MT-ND4 MT-ND1
15 pontocerebellar hypoplasia, type 6 32.3 YARS2 KARS1
16 myopathy 32.2 YARS2 PUS1 POLG NDUFS4 NDUFA13 ISCU
17 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 32.2 SUCLG1 POLG
18 mitochondrial dna depletion syndrome 6 32.2 SUCLG1 POLG
19 mitochondrial encephalomyopathy 32.2 SUCLG1 POLG NDUFS4 MT-ND4 MT-ND1
20 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome 32.1 SUCLG1 POLG
21 mitochondrial disease 32.0 YARS2 POLG NDUFS4 MT-ND4 MT-ND1
22 kearns-sayre syndrome 31.5 SUCLG1 PUS1 POLG NDUFS4 MT-ND4 MT-ND1
23 sideroblastic anemia 31.5 YARS2 PUS1 ISCU
24 hypertrophic cardiomyopathy 31.4 UQCRFS1 PUS1 POLG NDUFA13 MT-ND1
25 early myoclonic encephalopathy 31.2 POLG NDUFS4 MT-ND4 MT-ND1
26 myoclonic epilepsy associated with ragged-red fibers 31.2 POLG MT-ND4 MT-ND1
27 cortical blindness 31.2 POLG MT-ND4 MT-ND1
28 3-methylglutaconic aciduria, type iii 31.1 UQCRFS1 SUCLG1 POLG MT-ND4 MT-ND1
29 chronic progressive external ophthalmoplegia 31.0 SUCLG1 POLG MT-ND4 MT-ND1
30 optic nerve disease 30.8 POLG NDUFS4 MT-ND4 MT-ND1 KARS1
31 leber hereditary optic neuropathy, modifier of 30.7 UQCRFS1 POLG NDUFS4 MT-ND4 MT-ND1
32 neuropathy, ataxia, and retinitis pigmentosa 30.5 POLG NDUFS4 MT-ND4
33 leber optic atrophy and dystonia 30.4 MT-ND4 MT-ND1
34 perrault syndrome 30.4 YARS2 PRORP POLG KARS1
35 mitochondrial complex v deficiency, nuclear type 3 30.3 UQCRFS1 ATP5F1A
36 gracile syndrome 11.9
37 pyruvate carboxylase deficiency 11.8
38 myopathy with lactic acidosis, hereditary 11.8
39 combined oxidative phosphorylation deficiency 10 11.8
40 hydrops, lactic acidosis, and sideroblastic anemia 11.8
41 dihydrolipoamide dehydrogenase deficiency 11.8
42 mitochondrial myopathy with lactic acidosis 11.8
43 combined oxidative phosphorylation deficiency 18 11.7
44 mitochondrial phosphate carrier deficiency 11.7
45 combined oxidative phosphorylation deficiency 3 11.7
46 neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures 11.7
47 hyperglycinemia, lactic acidosis, and seizures 11.6
48 encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities 11.6
49 combined oxidative phosphorylation deficiency 19 11.6
50 combined oxidative phosphorylation deficiency 2 11.6

Graphical network of the top 20 diseases related to Lactic Acidosis:



Diseases related to Lactic Acidosis

Symptoms & Phenotypes for Lactic Acidosis

MGI Mouse Phenotypes related to Lactic Acidosis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.44 ATP5F1A CHAT DLD KARS1 NDUFA13 NDUFS4

Drugs & Therapeutics for Lactic Acidosis

Drugs for Lactic Acidosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 83)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Stavudine Approved, Investigational Phase 4 3056-17-5 18283
2
Metformin Approved Phase 4 1115-70-4, 657-24-9 4091
3
Entecavir Approved, Investigational Phase 4 142217-69-4 153941
4
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
5
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
6
Thiamine Approved, Investigational, Nutraceutical, Vet_approved Phase 4 70-16-6 1130
7
Riboflavin Approved, Investigational, Nutraceutical, Vet_approved Phase 4 83-88-5 493570
8
(3-Carboxy-2-(R)-Hydroxy-Propyl)-Trimethyl-Ammonium Experimental Phase 4 461-06-3
9 Folate Phase 4
10 Vitamins Phase 4
11 Vitamin B9 Phase 4
12 Trace Elements Phase 4
13 Vitamin B Complex Phase 4
14 Micronutrients Phase 4
15 Vitamin B1 Phase 4
16 Thiamin Phase 4
17 Liver Extracts Phase 4
18 Photosensitizing Agents Phase 4
19
Vitamin B2 Phase 4
20 Dermatologic Agents Phase 4
21 Hypoglycemic Agents Phase 4
22 Anti-Retroviral Agents Phase 4
23 Antiviral Agents Phase 4
24 Anti-Infective Agents Phase 4
25 Anti-HIV Agents Phase 4
26 Reverse Transcriptase Inhibitors Phase 4
27
Magnesium sulfate Approved, Investigational, Vet_approved Phase 2, Phase 3 7487-88-9
28
Ethanol Approved Phase 2, Phase 3 64-17-5 702
29
Abacavir Approved, Investigational Phase 2, Phase 3 136470-78-5, 188062-50-2 441300
30 Analgesics Phase 2, Phase 3
31 Hormones Phase 2, Phase 3
32 Anti-Arrhythmia Agents Phase 2, Phase 3
33 Calcium, Dietary Phase 2, Phase 3
34 Anticonvulsants Phase 2, Phase 3
35 Anesthetics Phase 2, Phase 3
36 calcium channel blockers Phase 2, Phase 3
37 Tocolytic Agents Phase 2, Phase 3
38
Calcium Nutraceutical Phase 2, Phase 3 7440-70-2 271
39
Idebenone Approved, Investigational Phase 2 58186-27-9 3686
40
Ubidecarenone Approved, Investigational, Nutraceutical Phase 2 303-98-0 5281915
41 Insulin, Globin Zinc Phase 2
42
Insulin Phase 2
43 Blood Substitutes Phase 2
44 Ubiquinone Phase 2
45 6-hydroxy-2,5,7,8-tetramethylchroman-2-carboxylic acid Phase 2
46 Antioxidants Phase 2
47 Protective Agents Phase 2
48 Pyruvate Phase 2
49
Nicotinamide Approved, Investigational 98-92-0 936
50
Nitroglycerin Approved, Investigational 55-63-0 4510

Interventional clinical trials:

(show all 41)
# Name Status NCT ID Phase Drugs
1 Lactic Acid Metabolism in HIV-Infected Persons. Predicting Abnormalities in Lactate Production and Clearance Related to Treatment and Liver Disease and Measuring the Impact of Vitamin Supplementation. Completed NCT00202228 Phase 4 cofactor supplementation (thiamine, riboflavin, L-carnitine)
2 Preoperative Parenteral Thiamine Supplementation in Patients Undergoing Heart Surgery - a Pilot Study Completed NCT01524315 Phase 4 Vitamin B1-ratiopharm;Placebo
3 Metformin Continuation Safety in Diabetic Patients Undergoing Coronary Angiography Recruiting NCT04766008 Phase 4 Metformin
4 The Incidence of Lactic Acidosis During Entecavir Treatment in Chronic Hepatitis B Patients With Severe Cirrhosis or Hepatic Failure Terminated NCT01354652 Phase 4 entecavir, lamivudine
5 Phase III Randomized Study of Sodium Dichloroacetate in Children With Congenital Lactic Acidosis Completed NCT00004490 Phase 3 sodium dichloroacetate
6 A Prospective Randomised Controlled Trial of the Effect of Magnesium Sulphate Administration on Red Cell Transketolase Activity in Alcohol Dependent Patients at Risk of Wernicke Korsakoff Syndrome Treated With Thiamine Completed NCT03466528 Phase 2, Phase 3 Magnesium Sulfate;Pabrinex
7 Randomized, Open-Label Study of Continued Stavudine Versus Abacavir Substitution With or Without Riboflavin and Thiamine Supplementation in HIV-Infected Patients Who Have Elevated Venous Lactic Acid While on Stavudine-Based Therapy (DAVE) Completed NCT00143702 Phase 2, Phase 3 d4T;Abacavir;Riboflavin and Thiamine (Supplementation)
8 Phase II Pilot Randomized Study of Sodium Dichloroacetate in Patients With Congenital Lactic Acidemia Completed NCT00004493 Phase 2 sodium dichloroacetate
9 Spectroscopic Evaluation of Lesion Evolution in Stroke: Trial of Insulin for Acute Lactic Acidosis (SELESTIAL) Completed NCT00124826 Phase 2 Insulin
10 A Multi-center, Randomized, Double-blind, Controlled Dose-finding Study to Evaluate the Safety and Efficacy of MP4OX Treatment Plus Standard of Care in Severely Injured Trauma Patients With Lactic Acidosis Due to Hemorrhagic Shock Completed NCT01004198 Phase 2 MP4OX;Ringers Lactate solution
11 A Phase 2a Safety, Tolerability, Pharmacokinetic, and Pharmacodynamic Study in Individuals With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes (MELAS) Completed NCT04475549 Phase 2 IW-6463 Tablets
12 A Phase IIa Double-Blind, Randomized, Placebo-Controlled, Dose-Finding Study of Idebenone in the Treatment of Mitochondrial Encephalopathy Lactic Acidosis and Stroke-like Episodes Completed NCT00887562 Phase 2 Idebenone
13 A Multi-center, Randomized, Double-blind, Controlled Study to Evaluate the Safety and Efficacy of MP4OX Treatment, in Addition to Standard Treatment, in Severely Injured Trauma Patients With Lactic Acidosis Due to Hemorrhagic Shock Completed NCT01262196 Phase 2 MP4OX;Saline
14 A Phase IIb Open-label, Multi-centre, Extension Study to Explore the Long-term Safety and Efficacy of KH176 in Subjects With a Genetically Confirmed Mitochondrial DNA tRNALeu(UUR) m.3243A>G Mutation Who Have Completed the KHENERGYZE Study KH176-202. Recruiting NCT04604548 Phase 2 Oral administration of 100 mg KH176 twice daily
15 Randomized, Double-blind, Placebo-controlled Trial of the Effect of Thiamine on Oxygen Consumption After In-hospital Cardiac Arrest. Terminated NCT02974257 Phase 2 Thiamine
16 A Multi-center, Multinational, Randomized, Double-blind, Controlled, Dose Comparison Study to Evaluate Safety and Efficacy of MP4OX Plus Standard Treatment, in Severely Injured Trauma Subjects With Lactic Acidosis Due to Hemorrhagic Shock Withdrawn NCT01973504 Phase 2 MP4OX;Control
17 Thiamine Supplementation in Patients With Septic Shock: A Randomized, Double Blind, Placebo Controlled Trial Withdrawn NCT03122678 Phase 1 Thiamine;Placebos
18 The Role of Nicotinamide Riboside in Mitochondrial Biogenesis Unknown status NCT03432871
19 Incidence of Lactic Acidosis After Coronary Angiography and Angioplasty in Diabetic Patients on Continued Metformin Therapy With Normal Renal Function. Completed NCT01873859 Metformin
20 Nitroglycerin Infusion During Rewarming in Cardiac Surgery and Its Effects on Tissue Perfusion and Coagulation Completed NCT01901419 Nitroglycerin infusion
21 Pharmacotoxicology of Trichloroethylene Metabolites Completed NCT00874276 Dichloroacetate (DCA)
22 Blood Lactate Levels in Patients Treated With Typical or Atypical Antipsychotics Completed NCT01139463 Haloperidol or olanzapine
23 Dichloroacetate Kinetics, Metabolism and Toxicology Completed NCT00015015 Dichloroacetate
24 On the Role of Mitochondrial Dysfunction in the Pathogenesis of Metformin-associated Lactic Acidosis Completed NCT00942123
25 Study of the Metabolism of Pyruvate and Related Problems in Patients With Lactic Acidemia Completed NCT00004353
26 Lactic Acidosis During and After Seizures Completed NCT01833247
27 Characterization of Lactic Acidosis in Pediatric Postoperative Cardiac Patients Completed NCT03025659
28 Glucose-insulin-potassium Therapy Improves Lactic Acidosis in Liver Transplantation Completed NCT03522181
29 Glutamine Supplement in MELAS (Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes) Syndrome in Order to Prevent Neurological Damage. Completed NCT04948138
30 Effect of Blood Storage Age on the Resolution of Lactic Acidosis in Children With Severe Malarial Anemia at Mulago Hospital Completed NCT01580111
31 Metformin Treatment, Renal Function and Lactic Acidosis. A Population Based Completed NCT01358994
32 The Effects of Whole Body Periodic Acceleration on Blood Lactate and Recovery in Trained Individuals Completed NCT02482597
33 Prevention of Dichloroacetate Toxicity Completed NCT00031161 Nitisinone (NTBC);Dichloroacetate
34 Study of Metformin Overdose in Adult Patients Treated at the University Hospital of Nancy: Single-center Descriptive Retrospective Observational Study Recruiting NCT04762966 Metformin
35 Investigation of the Correlation Between Plasma Concentration of Linezolid Antibiotic and Treatment Response and Adverse Reactions Recruiting NCT03126890
36 The Threshold of Serum Anion Gap as a Screening Tool for Organic Acidosis Active, not recruiting NCT04975906
37 Clinical Long Term Evaluation of Glutamine Supplement in MELAS (Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes) Syndrome in Order to Prevent Neurological Damage. Active, not recruiting NCT05255328
38 EuroSIDA Prospective Observational Cohort Study on Clinical and Virological Outcome of European Patients Infected With HIV Enrolling by invitation NCT02699736
39 Dichloroacetate Treatment of Congenital Lactic Acidosis Phase B: Expanded Access No longer available NCT01797276 Dichloroacetate
40 Effect of Remote Ischemic Preconditioning on Serum Lactate Levels As Well As Cardiac and Renal Functions During and After Open Heart Surgeries Withdrawn NCT03723993
41 The Gene Expression Studies of Tumor Microenvironments and Their Roles in Tumor Progression Withdrawn NCT00638040

Search NIH Clinical Center for Lactic Acidosis

Cochrane evidence based reviews: acidosis, lactic

Genetic Tests for Lactic Acidosis

Genetic tests related to Lactic Acidosis:

# Genetic test Affiliating Genes
1 Lactic Acidosis 28

Anatomical Context for Lactic Acidosis

Organs/tissues related to Lactic Acidosis:

MalaCards : Liver, Heart, Skeletal Muscle, Brain, Kidney, Bone Marrow, Spinal Cord

Publications for Lactic Acidosis

Articles related to Lactic Acidosis:

(show top 50) (show all 7055)
# Title Authors PMID Year
1
A homozygous mutation in the SCO2 gene causes a spinal muscular atrophy like presentation with stridor and respiratory insufficiency. 53 62
19879173 2010
2
Cytochrome c oxidase deficiency: patients and animal models. 53 62
19682572 2010
3
Mutations in ND subunits of complex I are an important genetic cause of childhood mitochondrial encephalopathies. 53 62
19617458 2009
4
Two novel POLG mutations causing hepatic mitochondrial DNA depletion with recurrent hypoketotic hypoglycaemia and fatal liver dysfunction. 53 62
19195941 2009
5
99-mTc-HMPAO single photon emission computed tomography examinations in genetically determined neurometabolic disorders. 53 62
19579665 2009
6
Remodelling of skeletal muscle cells in children with SCO2 gene mutation - ultrastructural study. 53 62
19353431 2009
7
Neonatal pyruvate dehydrogenase deficiency due to a R302H mutation in the PDHA1 gene: MRI findings. 53 62
18197404 2008
8
[Toxicogenetics of antiretroviral treatment (II): neurotoxicity, hepatotoxicity, lactic acidosis, kidney damage, and other adverse effects of antiretroviral drugs]. 53 62
18680693 2008
9
Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA). 53 62
17056637 2007
10
[Pyruvate dehydrogenase deficit associated to the C515T mutation in exon 6 of the E1alpha gene]. 53 62
16981164 2006
11
Pyruvate dehydrogenase E3 binding protein (protein X) deficiency. 53 62
16904023 2006
12
Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: a novel subtype of 3-methylglutaconic aciduria. 53 62
16736096 2006
13
Sporadic intragenic inversion of the mitochondrial DNA MTND1 gene causing fatal infantile lactic acidosis. 53 62
16492986 2006
14
Deficiency of glutathione transferase zeta causes oxidative stress and activation of antioxidant response pathways. 53 62
16278372 2006
15
Pyruvate carboxylase deficiency: metabolic characteristics and new neurological aspects. 53 62
16278852 2006
16
Extensive investigations of mitochondrial DNA genome in treated HIV-infected subjects: beyond mitochondrial DNA depletion. 53 62
15905734 2005
17
Biotinidase deficiency: the importance of adequate follow-up for an inconclusive newborn screening result. 53 62
15711955 2005
18
Mitochondrial myopathy, sideroblastic anemia, and lactic acidosis: an autosomal recessive syndrome in Persian Jews caused by a mutation in the PUS1 gene. 53 62
15971356 2005
19
The SR protein SC35 is responsible for aberrant splicing of the E1alpha pyruvate dehydrogenase mRNA in a case of mental retardation with lactic acidosis. 53 62
15798212 2005
20
Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF. 53 62
15767514 2005
21
[Lactic acidosis in HIV-patients--diagnosis and treatment]. 53 62
15373054 2004
22
Novel SCO2 mutation (G1521A) presenting as a spinal muscular atrophy type I phenotype. 53 62
14994243 2004
23
Mitochondrial complex I mutations in Caenorhabditis elegans produce cytochrome c oxidase deficiency, oxidative stress and vitamin-responsive lactic acidosis. 53 62
14662656 2004
24
Lactic acidosis and developmental delay due to deficiency of E3 binding protein (protein X) of the pyruvate dehydrogenase complex. 53 62
15303005 2004
25
A pathogenic glutamate-to-aspartate substitution (D296E) in the pyruvate dehydrogenase E1 subunit gene PDHA1. 53 62
14635113 2003
26
Quantitative analysis of human mitochondrial DNA using a real-time PCR assay. 53 62
12859329 2003
27
Splicing error in E1alpha pyruvate dehydrogenase mRNA caused by novel intronic mutation responsible for lactic acidosis and mental retardation. 53 62
12551913 2003
28
Childhood onset mitochondrial myopathy and lactic acidosis caused by a stop mutation in the mitochondrial cytochrome c oxidase III gene. 53 62
12414820 2002
29
Hypothalamic growth hormone deficiency and supplementary GH therapy in two patients with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes. 53 62
12536371 2002
30
Pathogenic mechanism, prophylaxis, and therapy of symptomatic acidosis induced by acetazolamide. 53 62
11928941 2002
31
Antioxidant agents have a different expression pattern in muscle fibers of patients with mitochondrial diseases. 53 62
11907800 2002
32
Pyruvate dehydrogenase E3 binding protein deficiency. 53 62
11935326 2002
33
Novel mutations in a boy with dihydrolipoamide dehydrogenase deficiency. 53 62
11687750 2001
34
Riboflavin treatment of antiretroviral induced lactic acidosis and hepatic steatosis. 53 62
11508132 2001
35
A SURF1 gene mutation presenting as isolated leukodystrophy. 53 62
11409433 2001
36
A genomewide linkage-disequilibrium scan localizes the Saguenay-Lac-Saint-Jean cytochrome oxidase deficiency to 2p16. 53 62
11156535 2001
37
[Early mitochondrial encephalomyopathy due to complex IV deficiency consistent with Alpers-Huttenlocher syndrome: report of two cases]. 53 62
10637838 1999
38
Nuclear DNA origin of mitochondrial complex I deficiency in fatal infantile lactic acidosis evidenced by transnuclear complementation of cultured fibroblasts. 53 62
10393702 1999
39
Dichloroacetate and cerebral ischaemia therapeutics. 53 62
15992085 1999
40
Molecular characterization of pyruvate carboxylase deficiency in two consanguineous families. 53 62
9585002 1998
41
Mouse mutants carrying deletions that remove the genes mutated in Coffin-Lowry syndrome and lactic acidosis. 53 62
9467016 1998
42
Hepatic pyruvate dehydrogenase activity in humans: effect of cirrhosis, transplantation, and dichloroacetate. 53 62
9530159 1998
43
Pyruvate dehydrogenase complex deficiency and absence of subunit X. 53 62
9501264 1998
44
Mutations in PDX1, the human lipoyl-containing component X of the pyruvate dehydrogenase-complex gene on chromosome 11p1, in congenital lactic acidosis. 53 62
9399911 1997
45
[Pyruvate dehydrogenase deficiency and cerebral malformations]. 53 62
8983728 1996
46
Pathology of skeletal muscle and impaired respiratory chain function in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency with the G1528C mutation. 53 62
8938697 1996
47
Leigh disease with deficiency of lipoamide dehydrogenase: treatment failure with dichloroacetate. 53 62
8652022 1996
48
Superoxide dismutases of muscle in mitochondrial encephalomyopathies. 53 62
7565923 1995
49
Prolonged survival in pyruvate carboxylase deficiency: lack of correlation with enzyme activity in cultured fibroblasts. 53 62
7720232 1995
50
Pyruvate dehydrogenase deficiency. Clinical presentation and molecular genetic characterization of five new patients. 53 62
8032855 1994

Variations for Lactic Acidosis

ClinVar genetic disease variations for Lactic Acidosis:

5 (show all 14)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 APOO NM_024122.5(APOO):c.350T>C (p.Ile117Thr) SNV Pathogenic
976657 GRCh37: X:23886748-23886748
GRCh38: X:23868631-23868631
2 NDUFS4 NM_002495.4(NDUFS4):c.350+5G>A SNV Pathogenic
930177 rs1751865973 GRCh37: 5:52942240-52942240
GRCh38: 5:53646410-53646410
3 NDUFA13 NM_015965.7(NDUFA13):c.194del (p.Phe65fs) DEL Pathogenic
983476 rs2061105702 GRCh37: 19:19638109-19638109
GRCh38: 19:19527300-19527300
4 NDUFA13 NM_015965.7(NDUFA13):c.107T>C (p.Leu36Pro) SNV Pathogenic
983478 rs2061098856 GRCh37: 19:19637003-19637003
GRCh38: 19:19526194-19526194
5 KARS1 NM_005548.3(KARS1):c.1354del (p.Leu452fs) DEL Pathogenic
560389 rs1567498374 GRCh37: 16:75664391-75664391
GRCh38: 16:75630493-75630493
6 UQCRFS1 NM_006003.3(UQCRFS1):c.41T>A (p.Val14Asp) SNV Pathogenic
619501 rs1568346416 GRCh37: 19:29703985-29703985
GRCh38: 19:29213078-29213078
7 UQCRFS1 NM_006003.3(UQCRFS1):c.610C>T (p.Arg204Ter) SNV Pathogenic
619499 rs1242465339 GRCh37: 19:29698670-29698670
GRCh38: 19:29207763-29207763
8 UQCRFS1 NM_006003.3(UQCRFS1):c.215-1G>C SNV Pathogenic
619297 rs1568344751 GRCh37: 19:29699066-29699066
GRCh38: 19:29208159-29208159
9 CHAT NM_020549.5(CHAT):c.2081C>G (p.Ser694Cys) SNV Pathogenic
523529 rs201439531 GRCh37: 10:50872926-50872926
GRCh38: 10:49664880-49664880
10 CHAT NM_020549.5(CHAT):c.1061C>T (p.Thr354Met) SNV Pathogenic
523528 rs769234940 GRCh37: 10:50835781-50835781
GRCh38: 10:49627735-49627735
11 ATP5F1A NM_004046.6(ATP5F1A):c.620G>A (p.Arg207His) SNV Likely Pathogenic
432972 rs1555695342 GRCh37: 18:43669562-43669562
GRCh38: 18:46089596-46089596
12 PRORP NM_014672.4(PRORP):c.1334G>A (p.Arg445Gln) SNV Likely Pathogenic
638209 rs777185638 GRCh37: 14:35735991-35735991
GRCh38: 14:35266785-35266785
13 PRORP NM_014672.4(PRORP):c.1197dup (p.Ser400fs) DUP Likely Pathogenic
638210 rs764714439 GRCh37: 14:35649901-35649902
GRCh38: 14:35180695-35180696
14 NGLY1 NM_018297.4(NGLY1):c.758G>T (p.Cys253Phe) SNV Uncertain Significance
812762 rs771354261 GRCh37: 3:25781191-25781191
GRCh38: 3:25739700-25739700

Expression for Lactic Acidosis

Search GEO for disease gene expression data for Lactic Acidosis.

Pathways for Lactic Acidosis

Pathways related to Lactic Acidosis according to GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.29 UQCRFS1 SUCLG1 PDP1 PDHX PDHA1 PC
2
Show member pathways
12.13 SUCLG1 PDHA1 PC DLD
3
Show member pathways
12.12 UQCRFS1 SUCLG1 PDP1 PDHX PDHA1 NDUFS4
4
Show member pathways
11.72 NDUFS4 NDUFA13 MT-ND4 MT-ND1
5
Show member pathways
11.69 SUCLG1 PDP1 PDHX PDHA1 DLD
6
Show member pathways
11.57 SUCLG1 PDHA1 PC DLD
7
Show member pathways
11.54 DLD PC PDHA1 PDHX SUCLG1
8
Show member pathways
11.47 PDHX PDHA1 DLD
9 11.23 PDHX PDHA1 DLD
10
Show member pathways
11.16 PDHX PDHA1 DLD
11 10.59 SUCLG1 PDHX
12 10.3 PDHA1 CHAT

GO Terms for Lactic Acidosis

Cellular components related to Lactic Acidosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial inner membrane GO:0005743 10.25 UQCRFS1 NDUFS4 NDUFA13 MT-ND4 MT-ND1 ATP5F1A
2 mitochondrial matrix GO:0005759 10.07 ATP5F1A DLD ISCU KARS1 PC PDHA1
3 mitochondrial respiratory chain complex I GO:0005747 9.97 NDUFS4 NDUFA13 MT-ND4 MT-ND1
4 mitochondrion GO:0005739 9.88 APOO ATP5F1A DLD ISCU KARS1 MT-ND1
5 mitochondrial pyruvate dehydrogenase complex GO:0005967 9.8 DLD PDHA1 PDHX
6 pyruvate dehydrogenase complex GO:0045254 9.73 PDHX PDHA1 DLD
7 respirasome GO:0070469 9.55 UQCRFS1 NDUFS4 NDUFA13 MT-ND4 MT-ND1

Biological processes related to Lactic Acidosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 aerobic respiration GO:0009060 9.97 NDUFS4 NDUFA13 MT-ND4 MT-ND1
2 mitochondrial respiratory chain complex I assembly GO:0032981 9.92 NDUFS4 NDUFA13 MT-ND4 MT-ND1
3 mitochondrial electron transport, NADH to ubiquinone GO:0006120 9.86 DLD MT-ND1 MT-ND4 NDUFS4
4 tRNA processing GO:0008033 9.71 PUS1 PRORP KARS1
5 acetyl-CoA biosynthetic process from pyruvate GO:0006086 9.63 PDHX PDHA1 DLD
6 pyruvate metabolic process GO:0006090 9.61 PDHA1 PC
7 obsolete mitochondrial acetyl-CoA biosynthetic process from pyruvate GO:0061732 9.43 PDHX PDHA1 DLD
8 proton motive force-driven mitochondrial ATP synthesis GO:0042776 9.32 NDUFS4 NDUFA13 MT-ND4 MT-ND1 ATP5F1A

Molecular functions related to Lactic Acidosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 tRNA binding GO:0000049 9.8 YARS2 PUS1 KARS1
2 NADH dehydrogenase (ubiquinone) activity GO:0008137 9.63 NDUFS4 MT-ND4 MT-ND1
3 NADH dehydrogenase activity GO:0003954 9.56 MT-ND4 MT-ND1
4 ligase activity GO:0016874 9.26 YARS2 SUCLG1 PC KARS1
5 pyruvate dehydrogenase (NAD+) activity GO:0034604 9.1 PDHX PDHA1 DLD

Sources for Lactic Acidosis

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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