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MCID: LCT001
MIFTS: 51

Lactic Acidosis

Categories: Metabolic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Lactic Acidosis

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MalaCards integrated aliases for Lactic Acidosis:

Name: Lactic Acidosis 12 29 6 15 17
Acidosis, Lactic 43 71
Acidosis Lactic 54

Classifications:

MalaCards categories:
Global: Metabolic diseases Rare diseases
See all MalaCards categories (disease lists)
ICD10: 32


External Ids:

Disease Ontology 12 DOID:3650
MeSH 43 D000140
NCIt 49 C98969
SNOMED-CT 67 91273001
ICD10 32 E87.2
UMLS 71 C0001125
Sources

Summaries for Lactic Acidosis

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Disease Ontology : 12 A metabolic acidosis characterized by buildup of lactate.

MalaCards based summary : Lactic Acidosis, also known as acidosis, lactic, is related to myopathy, lactic acidosis, and sideroblastic anemia 1 and myopathy, lactic acidosis, and sideroblastic anemia 2. An important gene associated with Lactic Acidosis is UQCRFS1 (Ubiquinol-Cytochrome C Reductase, Rieske Iron-Sulfur Polypeptide 1), and among its related pathways/superpathways are Metabolism and Parkinson disease. The drugs Zinc and Insulin lispro have been mentioned in the context of this disorder. Affiliated tissues include liver, brain and heart.

Wikipedia : 74 Lactic acidosis is a medical condition characterized by the buildup of lactate (especially L-lactate) in... more...

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Related Diseases for Lactic Acidosis

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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 665)
# Related Disease Score Top Affiliating Genes
1 myopathy, lactic acidosis, and sideroblastic anemia 1 35.4 YARS2 PUS1 MT-TK MT-ATP6
2 myopathy, lactic acidosis, and sideroblastic anemia 2 35.4 YARS2 PUS1 MT-ATP6
3 myopathy, lactic acidosis, and sideroblastic anemia 3 35.3 YARS2 PUS1 MT-ATP6
4 myopathy, lactic acidosis, and sideroblastic anemia 35.2 YARS2 PUS1 MT-ATP6
5 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 34.9 YARS2 MT-TK MT-ND5 MT-ND4 MT-ND1 MT-CO3
6 pyruvate dehydrogenase e1-alpha deficiency 34.5 PDHX PDHA1 PC
7 mitochondrial dna depletion syndrome 9 34.3 SUCLG1 MT-ND1
8 pearson marrow-pancreas syndrome 33.5 YARS2 PUS1 MT-TK MT-ND4 MT-ATP6
9 mitochondrial complex i deficiency, nuclear type 1 33.4 UQCRFS1 PDHA1 MT-ND4 MT-ND1 MT-ATP6
10 pyruvate dehydrogenase e3-binding protein deficiency 33.2 PDHX PDHA1 DLD
11 mitochondrial dna depletion syndrome 32.8 SUCLG1 MT-TK MT-ND4
12 mitochondrial myopathy, infantile, transient 32.6 MT-ND5 MT-ND1 MT-CO3 MT-ATP6
13 leigh syndrome 32.5 SUCLG1 PDP1 PDHX PDHA1 MT-TK MT-ND5
14 pontocerebellar hypoplasia, type 6 32.5 LARS2 KARS1
15 mitochondrial dna depletion syndrome 5 32.4 UQCRFS1 SUCLG1
16 myopathy 32.0 YARS2 PUS1 PNPLA8 MT-TK MT-ND5 MT-ND4
17 mitochondrial disorders 32.0 YARS2 MT-TK MT-ND5 MT-ND1 MT-ATP6
18 mitochondrial encephalomyopathy 31.9 SUCLG1 MT-TK MT-ND5 MT-ND4 MT-ND1 MT-CO3
19 mitochondrial myopathy 31.9 YARS2 SUCLG1 PUS1 PNPLA8 MT-TK MT-ND5
20 sideroblastic anemia 31.7 YARS2 PUS1 MT-ATP6 LARS2
21 peripheral nervous system disease 31.6 MT-TK MT-ND4 MT-ND1 MT-ATP6
22 neuropathy 31.4 MT-ND5 MT-ND4 MT-ND1 MT-CO3 MT-ATP6
23 early myoclonic encephalopathy 31.4 MT-TK MT-ND5 MT-ND4 MT-ATP6
24 cortical blindness 31.3 MT-ND5 MT-ND4 MT-ND1
25 kearns-sayre syndrome 31.1 SUCLG1 PUS1 MT-TK MT-ND5 MT-ND4 MT-ND1
26 chronic progressive external ophthalmoplegia 31.1 MT-TK MT-ND4 MT-ND1 MT-ATP6
27 wolff-parkinson-white syndrome 30.9 MT-TK MT-ND5 MT-ND4
28 mitochondrial metabolism disease 30.8 YARS2 UQCRFS1 SUCLG1 PUS1 PDP1 PDHX
29 3-methylglutaconic aciduria, type iii 30.8 UQCRFS1 SUCLG1 PC MT-TK MT-ND4 MT-ND1
30 myoclonic epilepsy associated with ragged-red fibers 30.8 MT-TK MT-ND5 MT-ND4 MT-ND1 MT-CO3 MT-ATP6
31 alpha-ketoglutarate dehydrogenase deficiency 30.7 PDHA1 DLD
32 ptosis 30.6 MT-TK MT-ND4 MT-ND1 CHAT
33 perrault syndrome 30.5 YARS2 LARS2 KARS1
34 optic nerve disease 30.1 MT-TK MT-ND5 MT-ND4 MT-ND1 MT-CO3 MT-ATP6
35 mitochondrial myopathy with lactic acidosis 12.9
36 mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes 12.9
37 myopathy with lactic acidosis, hereditary 12.9
38 hydrops, lactic acidosis, and sideroblastic anemia 12.8
39 neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures 12.8
40 encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities 12.7
41 hyperglycinemia, lactic acidosis, and seizures 12.7
42 gracile syndrome 12.6
43 lactic acidosis, chronic adult form 12.5
44 exercise intolerance with lactic acidosis 12.5
45 pyruvate carboxylase deficiency 12.5
46 dihydrolipoamide dehydrogenase deficiency 12.4
47 lactic acidosis congenital infantile 12.4
48 combined oxidative phosphorylation deficiency 10 12.4
49 leigh syndrome, french canadian type 12.2
50 combined oxidative phosphorylation deficiency 18 12.1

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



Diseases related to Lactic Acidosis
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Symptoms & Phenotypes for Lactic Acidosis

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Drugs & Therapeutics for Lactic Acidosis

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

(show top 50) (show all 176)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Zinc Approved, Investigational Phase 4 7440-66-6 32051
2
Insulin lispro Approved Phase 4 133107-64-9
3
Telbivudine Approved, Investigational Phase 4 3424-98-4 159269
4
Celecoxib Approved, Investigational Phase 4 169590-42-5 2662
5
parecoxib Approved Phase 4 198470-84-7
6
Tramadol Approved, Investigational Phase 4 27203-92-5 33741
7
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
8
Racepinephrine Approved Phase 4 329-65-7 838
9
Ritonavir Approved, Investigational Phase 4 155213-67-5 392622
10
Fenoldopam Approved Phase 4 67227-57-0, 67227-56-9 3341
11
Zidovudine Approved Phase 4 30516-87-1 35370
12
Emtricitabine Approved, Investigational Phase 4 143491-57-0 60877
13
Darunavir Approved Phase 4 206361-99-1, 635728-49-3 213039
14
Magnesium Sulfate Approved, Investigational, Vet_approved Phase 4 7487-88-9 24083
15
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
16
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 5311068 68602
17
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
18
Metformin Approved Phase 4 657-24-9 14219 4091
19
Entecavir Approved, Investigational Phase 4 142217-69-4 153941
20
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
21
Stavudine Approved, Investigational Phase 4 3056-17-5 18283
22
Efavirenz Approved, Investigational Phase 4 154598-52-4 64139
23
Riboflavin Approved, Investigational, Nutraceutical, Vet_approved Phase 4 83-88-5 493570
24
Adefovir Investigational Phase 4 106941-25-7
25
Tenofovir Experimental, Investigational Phase 4 147127-20-6 464205
26 Hormone Antagonists Phase 4
27 Sitagliptin Phosphate Phase 4
28 Incretins Phase 4
29 Cyclooxygenase Inhibitors Phase 4
30 Cyclooxygenase 2 Inhibitors Phase 4
31 Antirheumatic Agents Phase 4
32 Anti-Inflammatory Agents, Non-Steroidal Phase 4
33 Epinephryl borate Phase 4
34 carnitine Phase 4
35 Photosensitizing Agents Phase 4
36 Vitamin B2 Phase 4
37
protease inhibitors Phase 4
38 Cytochrome P-450 CYP3A Inhibitors Phase 4
39 HIV Protease Inhibitors Phase 4
40 Integrase Inhibitors Phase 4
41 HIV Integrase Inhibitors Phase 4
42 Vaccines Phase 4
43 Immunologic Factors Phase 4
44 Dopamine agonists Phase 4
45 Atazanavir Sulfate Phase 4
46 Lamivudine, zidovudine drug combination Phase 4
47 Emtricitabine, Tenofovir Disoproxil Fumarate Drug Combination Phase 4
48 Raltegravir Potassium Phase 4
49 Fenugreek Phase 4
50 Fenugreek seed meal Phase 4

Interventional clinical trials:

(show top 50) (show all 115)
# Name Status NCT ID Phase Drugs
1 Preoperative Parenteral Thiamine Supplementation in Patients Undergoing Heart Surgery - a Pilot Study Unknown status NCT01524315 Phase 4 Vitamin B1-ratiopharm;Placebo
2 Metformin and Sitagliptin Therapy for Adult Patients With Type 2 Diabetes Admitted to the General Medical Unit Unknown status NCT02250794 Phase 4 metformin and sitagliptin;insulin glargine and insulin lispro;metformin and sitagliptin;insulin glargine and insulin lispro
3 Telbivudine Renoprotective Effect in Patients With the HBV-related Liver Cirrhosis: a Randomized Controlled Trial Unknown status NCT01799486 Phase 4 Telbivudine;Enecavir;Adefovir
4 Metformin for Weight Control in Adolescents Taking Atypical Antipsychotics- Double Blind Placebo Controlled Study Unknown status NCT00845936 Phase 4 Metformin
5 Effect of COX-2 Selective Inhibitors on Postoperative Insulin Resistance, Tramadol PCA and Early Postoperative Enteral Nutrition in Patients After Gastrointestinal Laparoscopic Surgery Unknown status NCT01930318 Phase 4 parecoxib
6 Does the Early Use of Sodium Bicarbonate Improve Results of Cardiopulmonary Resuscitation Following Out-of-Hospital Cardiac Arrest - a Prospective, Controlled Clinical Trial Unknown status NCT01377337 Phase 4 sodium bicarbonate
7 An Open Pilot Study to Evaluate the Efficacy and Safety, Tolerability of Raltegravir（RAL）in Treatment-experienced HIV-1 Infected Adult Chinese Patients Unknown status NCT01201239 Phase 4 raltegravir
8 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)
9 Metabolic and Immune Responses to TIV in Patients With Mitochondrial Disease Completed NCT01831934 Phase 4
10 Fenoldopam Prophylaxis of Splanchnic Organs Underperfusion During Cardiopulmonary Bypass: a Randomized, Controlled Trial. Completed NCT00747331 Phase 4 Fenoldopam mesilate;Placebo
11 Pilot Study for the Evaluation of the Safety and the Feasibility of Treatment Simplification to Atazanavir/Ritonavir + Lamivudine in Patients Stably Treated With Two NRTIs + Atazanavir/Ritonavir With Optimal Virologic Response. Completed NCT00885482 Phase 4 Lamiduvine (Epivir);Atazanavir (Reyataz);Ritonavir (Norvir)
12 Oral Hypoglycemic Agent Continuation Versus Interruption in Type 2 Diabetic Patients Undergoing Ambulatory Surgery Completed NCT03179254 Phase 4 Metformin continue;Metformin discontinue
13 The Metformin in CABG (MetCAB) Trial Completed NCT01438723 Phase 4 Metformin;Placebo
14 Pilot Phase IV, Multicenter, Randomized, Open-label and Controlled Study to Assess the Evolution of Peripheral Body Fat Distribution After Switching From Zidovudine Containing Backbone to Truvada in HIV-1-infected Patients on HAART (RECOMB Study). Completed NCT00324649 Phase 4 Truvada;Zidovudine/lamivudine
15 Evaluation of Safety and Efficacy of Raltegravir/Darunavir Combination in Antiretroviral-Naive Patients Completed NCT00677300 Phase 4 Raltegravir;Darunavir;Ritonavir;Tenofovir/Emtricitabine
16 Clinical Evaluation of Fenugreek Seed Extract In Patients With Type- 2 Diabetes: An Add-On Study Completed NCT02700477 Phase 4
17 Intravenous Infusion Versus Intrathecal Injection of Magnesium Sulfate for Prevention of Postspinal Shivering During Lower Limb Fracture Surgery. A Randomized Comparative Study Recruiting NCT04249804 Phase 4 Magnesium Sulfate 1000 MG
18 Comparison of Propofol and Dexmedetomidine to Treat Hyperactive and Mixed ICU Delirium - the Basel ProDex Randomized Trial Recruiting NCT02807467 Phase 4 Dexmedetomidine;Propofol
19 Perioperative Continuation of Metformin Therapy in Patients With Typ 2 Diabetes Mellitus Undergoing Non-cardiac Surgery Not yet recruiting NCT04284722 Phase 4 Metformin Hydrochloride
20 ContinuAtioN of meTformin to Improve And KEep Peri-operative Glycemic Control: A Randomized, Double-Blind, Placebo-Controlled Pilot Study. Not yet recruiting NCT02571608 Phase 4 Metformin;Placebo
21 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
22 Molecular, Biochemical and Clinical Differences Between Stavudine and Tenofovir, Each Combined With Lamivudine and Efavirenz in South African HIV-infected Patients Terminated NCT01601899 Phase 4 Stavudine;Stavudine;Tenofovir
23 Phase III Randomized Study of Sodium Dichloroacetate in Children With Congenital Lactic Acidosis Completed NCT00004490 Phase 3 sodium dichloroacetate
24 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)
25 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
26 A Prospective Study of RBC Transfusion in Children With Severe Anemia Completed NCT01586923 Phase 3
27 A Phase III Double-blind, Parallel Group, Randomized, Placebo-controlled Clinical Trial to Study the Efficacy and Safety of MP-513 Monotherapy in Patients With Type 2 Diabetes Mellitus Completed NCT01798238 Phase 3 MP-513;Placebo
28 Study of Metformin HCL in Patients With Type 2 Diabetes Intensively Treated With Insulin: a Treatment Strategy for Insulin Resistance in Type 2 Diabetes Mellitus: a Randomized Controlled Trial Completed NCT00375388 Phase 3 Metformin on top of intensive insulin therapy
29 Efficacy and Safety of Fish Oil (Omega-3 Fatty Acid) Supplementation With Therapeutic Lifestyle Changes Diet Associated With Lipidic Profile in HIV-positive Patients With Antiretroviral Therapy. Completed NCT02537236 Phase 3
30 Phase 3 Trial of Dichloroacetate in Pyruvate Dehydrogenase Complex Deficiency: Recruiting NCT02616484 Phase 3 Dichloroacetate (DCA)
31 A Prospective Randomized, Double Blind, Placebo-controlled, Safety and Efficacy Study of Metformin as add-on Therapy in Non-diabetic Patients With Abdominal Aortic Aneurysm (MetAAA Study) Enrolling by invitation NCT03507413 Phase 2, Phase 3 Metformin Glucophage 500mg (IR) tablets M90;Placebo Oral Tablet
32 Patients With Heart Failure ANd Type 2 Diabetes Treated With Placebo Or Metformin (PHANTOM) Pilot Study Terminated NCT00325910 Phase 3 Metformin
33 Investigation of Clinical Syndromes Associated With mtDNA Point Mutations: MELAS/DCA Clinical Trial Unknown status NCT00068913 Phase 2 Dichloroacetate
34 Metformin in Moderate and Severe Renal Failure (CKD 3-4): A Follow-up Study Unknown status NCT02848508 Phase 2 Metformin
35 Efficacy of Intrathecal Versus Intravenous Dexmedetomidine for Prevention of Post Spinal Anesthesia Shivering in Patients Undergoing TURP Unknown status NCT02965586 Phase 1, Phase 2 intrathecal
36 Single Arm Phase 2 Study of Metformin and Simvastatin in Addition to Fulvestrant in Metastatic Estrogen Receptor Positive Breast Cancer Unknown status NCT03192293 Phase 2 Metformin/Simvastatin/Fulvestrant
37 Phase II Pilot Randomized Study of Sodium Dichloroacetate in Patients With Congenital Lactic Acidemia Completed NCT00004493 Phase 2 sodium dichloroacetate
38 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;Idebenone
39 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;MP4OX;Ringers Lactate solution
40 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
41 Thiamine as a Metabolic Resuscitator in Septic Shock Completed NCT01070810 Phase 1, Phase 2 D5W;Thiamine
42 An Exploratory, Double-blind, Randomized, Placebo-controlled, Single-center, Two-way Cross-over Study With KH176 in Patients With the Mitochondrial DNA tRNALeu(UUR) m.3243A>G Mutation and Clinical Signs of Mitochondrial Disease Completed NCT02909400 Phase 2 KH176;placebo
43 Spectroscopic Evaluation of Lesion Evolution in Stroke: Trial of Insulin for Acute Lactic Acidosis (SELESTIAL) Completed NCT00124826 Phase 2 Insulin
44 The Effect of Thiamine vs. Placebo on VO2 in Critical Illness Completed NCT01985685 Phase 2 Thiamine
45 Ubiquinol (Reduced COQ10) for Patients With Sepsis Completed NCT01948063 Phase 2 Ubiquinol
46 Goal-Directed Intraoperative Therapy Reduces Morbidity and Length of Hospital Stay in High Risk Surgical Patients Completed NCT00254150 Phase 2
47 A Multicentric, Randomized, Phase II Study Evaluating the Combination of METFORMIN With TAXOTERE®+Metformine Placebo Versus TAXOTERE®+Metformin for the Treatment of Metastatic Hormone-refractory Prostate Cancer. Completed NCT01796028 Phase 2 METFORMIN;Placebo;TAXOTERE®
48 Randomized, Double-blind, Placebo-controlled Trial of the Effect of Thiamine on Oxygen Consumption After In-hospital Cardiac Arrest. Active, not recruiting NCT02974257 Phase 2 Thiamine
49 Implications of Variable Intraoperative Fluid Strategies Upon the Hepatic Outcome in Hepatobiliary Surgery Not yet recruiting NCT03923816 Phase 1, Phase 2 Conservative fluid strategy: 12 mL/kg/h of Lactated Ringer (LR).&Restrictive fluid strategy:6 mL/kg/h of Lactated Ringer (LR).
50 Modulating Endoplasmic Reticulum Stress as a Prophylactic Approach Against Symptomatic Viral Infection (Part A) Not yet recruiting NCT04267809 Phase 2 Metformin Hydrochloride

Search NIH Clinical Center for Lactic Acidosis

Cochrane evidence based reviews: acidosis, lactic

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Genetic Tests for Lactic Acidosis

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Genetic tests related to Lactic Acidosis:

# Genetic test Affiliating Genes
1 Lactic Acidosis 29
Sources

Anatomical Context for Lactic Acidosis

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MalaCards organs/tissues related to Lactic Acidosis:

40
Liver, Brain, Heart, Kidney, Skeletal Muscle, Testes, Lung
Sources

Publications for Lactic Acidosis

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Articles related to Lactic Acidosis:

(show top 50) (show all 6376)
# Title Authors PMID Year
1
A homozygous mutation in the SCO2 gene causes a spinal muscular atrophy like presentation with stridor and respiratory insufficiency. 54 61
19879173 2010
2
Cytochrome c oxidase deficiency: patients and animal models. 54 61
19682572 2010
3
Mutations in ND subunits of complex I are an important genetic cause of childhood mitochondrial encephalopathies. 61 54
19617458 2009
4
Two novel POLG mutations causing hepatic mitochondrial DNA depletion with recurrent hypoketotic hypoglycaemia and fatal liver dysfunction. 61 54
19195941 2009
5
99-mTc-HMPAO single photon emission computed tomography examinations in genetically determined neurometabolic disorders. 54 61
19579665 2009
6
Remodelling of skeletal muscle cells in children with SCO2 gene mutation - ultrastructural study. 54 61
19353431 2009
7
[Toxicogenetics of antiretroviral treatment (II): neurotoxicity, hepatotoxicity, lactic acidosis, kidney damage, and other adverse effects of antiretroviral drugs]. 61 54
18680693 2008
8
Neonatal pyruvate dehydrogenase deficiency due to a R302H mutation in the PDHA1 gene: MRI findings. 61 54
18197404 2008
9
Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA). 54 61
17056637 2007
10
[Pyruvate dehydrogenase deficit associated to the C515T mutation in exon 6 of the E1alpha gene]. 54 61
16981164 2006
11
Pyruvate dehydrogenase E3 binding protein (protein X) deficiency. 61 54
16904023 2006
12
Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: a novel subtype of 3-methylglutaconic aciduria. 61 54
16736096 2006
13
Sporadic intragenic inversion of the mitochondrial DNA MTND1 gene causing fatal infantile lactic acidosis. 61 54
16492986 2006
14
Deficiency of glutathione transferase zeta causes oxidative stress and activation of antioxidant response pathways. 61 54
16278372 2006
15
Pyruvate carboxylase deficiency: metabolic characteristics and new neurological aspects. 61 54
16278852 2006
16
Extensive investigations of mitochondrial DNA genome in treated HIV-infected subjects: beyond mitochondrial DNA depletion. 54 61
15905734 2005
17
Mitochondrial myopathy, sideroblastic anemia, and lactic acidosis: an autosomal recessive syndrome in Persian Jews caused by a mutation in the PUS1 gene. 61 54
15971356 2005
18
Biotinidase deficiency: the importance of adequate follow-up for an inconclusive newborn screening result. 54 61
15711955 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. 54 61
15798212 2005
20
Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF. 61 54
15767514 2005
21
[Lactic acidosis in HIV-patients--diagnosis and treatment]. 61 54
15373054 2004
22
Novel SCO2 mutation (G1521A) presenting as a spinal muscular atrophy type I phenotype. 54 61
14994243 2004
23
Mitochondrial complex I mutations in Caenorhabditis elegans produce cytochrome c oxidase deficiency, oxidative stress and vitamin-responsive lactic acidosis. 61 54
14662656 2004
24
Lactic acidosis and developmental delay due to deficiency of E3 binding protein (protein X) of the pyruvate dehydrogenase complex. 61 54
15303005 2004
25
A pathogenic glutamate-to-aspartate substitution (D296E) in the pyruvate dehydrogenase E1 subunit gene PDHA1. 61 54
14635113 2003
26
Quantitative analysis of human mitochondrial DNA using a real-time PCR assay. 54 61
12859329 2003
27
Splicing error in E1alpha pyruvate dehydrogenase mRNA caused by novel intronic mutation responsible for lactic acidosis and mental retardation. 54 61
12551913 2003
28
Childhood onset mitochondrial myopathy and lactic acidosis caused by a stop mutation in the mitochondrial cytochrome c oxidase III gene. 61 54
12414820 2002
29
Hypothalamic growth hormone deficiency and supplementary GH therapy in two patients with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes. 61 54
12536371 2002
30
Antioxidant agents have a different expression pattern in muscle fibers of patients with mitochondrial diseases. 61 54
11907800 2002
31
Pathogenic mechanism, prophylaxis, and therapy of symptomatic acidosis induced by acetazolamide. 54 61
11928941 2002
32
Pyruvate dehydrogenase E3 binding protein deficiency. 61 54
11935326 2002
33
Novel mutations in a boy with dihydrolipoamide dehydrogenase deficiency. 61 54
11687750 2001
34
Riboflavin treatment of antiretroviral induced lactic acidosis and hepatic steatosis. 54 61
11508132 2001
35
A SURF1 gene mutation presenting as isolated leukodystrophy. 54 61
11409433 2001
36
A genomewide linkage-disequilibrium scan localizes the Saguenay-Lac-Saint-Jean cytochrome oxidase deficiency to 2p16. 61 54
11156535 2001
37
[Early mitochondrial encephalomyopathy due to complex IV deficiency consistent with Alpers-Huttenlocher syndrome: report of two cases]. 61 54
10637838 1999
38
Nuclear DNA origin of mitochondrial complex I deficiency in fatal infantile lactic acidosis evidenced by transnuclear complementation of cultured fibroblasts. 54 61
10393702 1999
39
Dichloroacetate and cerebral ischaemia therapeutics. 54 61
15992085 1999
40
Molecular characterization of pyruvate carboxylase deficiency in two consanguineous families. 54 61
9585002 1998
41
Mouse mutants carrying deletions that remove the genes mutated in Coffin-Lowry syndrome and lactic acidosis. 54 61
9467016 1998
42
Hepatic pyruvate dehydrogenase activity in humans: effect of cirrhosis, transplantation, and dichloroacetate. 61 54
9530159 1998
43
Pyruvate dehydrogenase complex deficiency and absence of subunit X. 61 54
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. 61 54
9399911 1997
45
Pathology of skeletal muscle and impaired respiratory chain function in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency with the G1528C mutation. 61 54
8938697 1996
46
[Pyruvate dehydrogenase deficiency and cerebral malformations]. 54 61
8983728 1996
47
Leigh disease with deficiency of lipoamide dehydrogenase: treatment failure with dichloroacetate. 54 61
8652022 1996
48
Superoxide dismutases of muscle in mitochondrial encephalomyopathies. 54 61
7565923 1995
49
Prolonged survival in pyruvate carboxylase deficiency: lack of correlation with enzyme activity in cultured fibroblasts. 61 54
7720232 1995
50
Pyruvate dehydrogenase deficiency. Clinical presentation and molecular genetic characterization of five new patients. 54 61
8032855 1994
Sources

Variations for Lactic Acidosis

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ClinVar genetic disease variations for Lactic Acidosis:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CHAT NM_020549.4(CHAT):c.2081C>G (p.Ser694Cys)SNV Pathogenic 523529 rs201439531 10:50872926-50872926 10:49664880-49664880
2 KARS1 NM_001130089.1(KARS1):c.1438del (p.Leu480fs)deletion Pathogenic 560389 rs1567498374 16:75664391-75664391 16:75630493-75630493
3 UQCRFS1 NM_006003.3(UQCRFS1):c.215-1G>CSNV Pathogenic 619297 rs1568344751 19:29699066-29699066 19:29208159-29208159
4 UQCRFS1 NM_006003.3(UQCRFS1):c.610C>T (p.Arg204Ter)SNV Pathogenic 619499 rs1242465339 19:29698670-29698670 19:29207763-29207763
5 UQCRFS1 NM_006003.3(UQCRFS1):c.41T>A (p.Val14Asp)SNV Pathogenic 619501 rs1568346416 19:29703985-29703985 19:29213078-29213078
6 NGLY1 NM_018297.4(NGLY1):c.758G>T (p.Cys253Phe)SNV Likely pathogenic 812762 3:25781191-25781191 3:25739700-25739700
7 CHAT NM_020549.4(CHAT):c.1061C>T (p.Thr354Met)SNV Conflicting interpretations of pathogenicity 523528 rs769234940 10:50835781-50835781 10:49627735-49627735
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Expression for Lactic Acidosis

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Search GEO for disease gene expression data for Lactic Acidosis.
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Pathways for Lactic Acidosis

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

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Metabolism 65
Show member pathways
 13.71 UQCRFS1 SUCLG1 PNPLA8 PDP1 PDHX PDHA1
2
Parkinson disease 36
Show member pathways
 12.95 UQCRFS1 MT-ND5 MT-ND4 MT-ND1 MT-CO3 MT-ATP6
3
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. 65
Show member pathways
 12.76 UQCRFS1 SUCLG1 PDP1 PDHX PDHA1 MT-ND5
4
Glucose metabolism 65
Show member pathways
 12.41 PDHX PDHA1 PC DLD
5
Carbon metabolism 36
Show member pathways
 12.12 SUCLG1 PDHA1 PC DLD
6
tRNA Aminoacylation 65
Show member pathways
 11.98 YARS2 MT-TK LARS2 KARS1
7
Pyruvate metabolism and Citric Acid (TCA) cycle 65
Show member pathways
 11.77 SUCLG1 PDP1 PDHX PDHA1 DLD
8
Citrate cycle (TCA cycle) 36
Show member pathways
 11.64 SUCLG1 PDHA1 PC DLD
9
Signaling by Retinoic Acid 65
Show member pathways
 11.47 PDHX PDHA1 DLD
10
Pyruvate metabolism 36
Show member pathways
 11.2 PDHA1 PC DLD
11
Glyoxylate metabolism and glycine degradation 65
Show member pathways
 11.09 PDHX PDHA1 DLD
12
Amino Acid metabolism 1
11.06 SUCLG1 PDHX PDHA1 PC LARS2 DLD
13
Acetylcholine Synthesis 1
10.3 PDHA1 CHAT
Sources

GO Terms for Lactic Acidosis

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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 9.8 UQCRFS1 MT-ND5 MT-ND4 MT-ND1 MT-CO3 MT-ATP6
2 mitochondrial matrix GO:0005759 9.7 YARS2 SUCLG1 PUS1 PDP1 PDHX PDHA1
3 mitochondrion GO:0005739 9.58 YARS2 UQCRFS1 SUCLG1 PUS1 PNPLA8 PDP1
4 respiratory chain GO:0070469 9.56 UQCRFS1 MT-ND5 MT-ND4 MT-ND1
5 mitochondrial respiratory chain complex I GO:0005747 9.54 MT-ND5 MT-ND4 MT-ND1
6 pyruvate dehydrogenase complex GO:0045254 9.33 PDHX PDHA1 DLD

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.8 UQCRFS1 PDHA1 MT-ND5 MT-ND4 MT-ND1 MT-CO3
2 mitochondrial respiratory chain complex I assembly GO:0032981 9.67 MT-ND5 MT-ND4 MT-ND1
3 tRNA aminoacylation for protein translation GO:0006418 9.58 YARS2 LARS2 KARS1
4 tricarboxylic acid cycle GO:0006099 9.54 SUCLG1 PDHA1 DLD
5 aerobic respiration GO:0009060 9.5 MT-ND4 MT-ND1 MT-CO3
6 ATP synthesis coupled electron transport GO:0042773 9.48 MT-ND5 MT-ND4
7 electron transport coupled proton transport GO:0015990 9.46 MT-ND5 MT-ND4
8 mitochondrial electron transport, NADH to ubiquinone GO:0006120 9.46 MT-ND5 MT-ND4 MT-ND1 DLD
9 acetyl-CoA biosynthetic process from pyruvate GO:0006086 9.43 PDHA1 DLD
10 mitochondrial acetyl-CoA biosynthetic process from pyruvate GO:0061732 9.13 PDHX PDHA1 DLD
11 pyruvate metabolic process GO:0006090 8.92 PDHX PDHA1 PC DLD

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

# Name GO ID Score Top Affiliating Genes
1 tRNA binding GO:0000049 9.54 YARS2 PUS1 KARS1
2 NADH dehydrogenase (ubiquinone) activity GO:0008137 9.5 MT-ND5 MT-ND4 MT-ND1
3 aminoacyl-tRNA ligase activity GO:0004812 9.43 YARS2 LARS2 KARS1
4 2 iron, 2 sulfur cluster binding GO:0051537 9.4 UQCRFS1 ISCU
5 ligase activity GO:0016874 9.35 YARS2 SUCLG1 PC LARS2 KARS1
6 NADH dehydrogenase activity GO:0003954 9.33 MT-ND5 MT-ND4 MT-ND1
7 pyruvate dehydrogenase (NAD+) activity GO:0034604 8.8 PDHX PDHA1 DLD
Sources

Sources for Lactic Acidosis

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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