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MCT1D
MCID: MNC019
MIFTS: 47

Monocarboxylate Transporter 1 Deficiency (MCT1D)

Categories: Genetic diseases, Metabolic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Monocarboxylate Transporter 1 Deficiency

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MalaCards integrated aliases for Monocarboxylate Transporter 1 Deficiency:

Name: Monocarboxylate Transporter 1 Deficiency 57 73 29 6 39 71
Ketosis 44 71
Mct1d 57 73
Ketoacidosis Due to Monocarboxylate Transporter-1 Deficiency 58

Characteristics:

Orphanet epidemiological data:

58
ketoacidosis due to monocarboxylate transporter-1 deficiency
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
age of onset within the first years of life
episodes brought on by fasting or infection


HPO:

31
monocarboxylate transporter 1 deficiency:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Metabolic diseases Rare diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Inborn errors of metabolism


External Ids:

OMIM® 57 616095
MeSH 44 D007662
ICD10 via Orphanet 33 E88.8
Orphanet 58 ORPHA438075
UMLS 71 C0022638 C4015186
Sources

Summaries for Monocarboxylate Transporter 1 Deficiency

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UniProtKB/Swiss-Prot : 73 Monocarboxylate transporter 1 deficiency: A metabolic disorder characterized by recurrent ketoacidosis, a pathologic state due to ketone formation exceeding ketone utilization. The clinical consequences of ketoacidosis are vomiting, osmotic diuresis, dehydration, and Kussmaul breathing. The condition may progress to decreased consciousness and, ultimately, death.

MalaCards based summary : Monocarboxylate Transporter 1 Deficiency, also known as ketosis, is related to diabetes mellitus, ketosis-prone and hyperinsulinemic hypoglycemia, familial, 7. An important gene associated with Monocarboxylate Transporter 1 Deficiency is SLC16A1 (Solute Carrier Family 16 Member 1), and among its related pathways/superpathways are Metabolism and Glucose / Energy Metabolism. The drugs Metformin and Insulin glulisine have been mentioned in the context of this disorder. Affiliated tissues include liver, brain and kidney, and related phenotypes are intellectual disability and global developmental delay

Wikipedia : 74 Monocarboxylate transporter 1 is a protein that in humans is encoded by the SLC16A1 gene (also known as... more...

More information from OMIM: 616095
Sources

Related Diseases for Monocarboxylate Transporter 1 Deficiency

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Diseases related to Monocarboxylate Transporter 1 Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 205)
# Related Disease Score Top Affiliating Genes
1 diabetes mellitus, ketosis-prone 32.8 INS GAD1
2 hyperinsulinemic hypoglycemia, familial, 7 32.4 SLC16A1 GLUD1
3 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 30.6 INS GAD1
4 hypoglycemia 30.2 SLC16A1 INS IAPP GLUD1
5 hyperinsulinism 29.9 SLC16A1 INS GLUD1
6 type 1 diabetes mellitus 29.9 PTPN3 INS IAPP GAD1
7 holocarboxylase synthetase deficiency 29.7 PC HLCS
8 insulinoma 29.7 INS IAPP GAD1
9 multiple carboxylase deficiency 29.7 PC HLCS
10 lipid metabolism disorder 29.5 LCAT INS GGT1
11 islet cell tumor 29.4 INS IAPP
12 type 2 diabetes mellitus 29.1 LCAT INS IAPP GGT1 GAD1
13 maturity-onset diabetes of the young 28.8 SLC16A1 INS IAPP GGT1 GAD1
14 body mass index quantitative trait locus 11 28.4 PC LCAT INS IAPP GGT1
15 propionic acidemia 11.1
16 fructose-1,6-bisphosphatase deficiency 11.0
17 glycogen storage disease vi 11.0
18 tropical calcific pancreatitis 10.9
19 succinyl-coa:3-oxoacid-coa transferase deficiency 10.9
20 3-hydroxy-3-methylglutaryl-coa lyase deficiency 10.9
21 malonyl-coa decarboxylase deficiency 10.9
22 growth hormone deficiency, isolated partial 10.9
23 phosphorylase kinase deficiency 10.9
24 glycogen storage disease type 0 10.9
25 hyperglycemia 10.6
26 diabetes mellitus 10.5
27 ocular motor apraxia 10.4
28 fatty liver disease 10.4
29 mastitis 10.4
30 asphyxia neonatorum 10.2 SLC16A1 INS
31 autoimmune polyendocrine syndrome, type ii 10.2 INS GAD1
32 autoimmune polyendocrine syndrome 10.2 INS GAD1
33 algoneurodystrophy 10.2 LCAT INS
34 hypertriglyceridemia, familial 10.1
35 lactic acidosis 10.1
36 kwashiorkor 10.1 LCAT INS
37 fetal macrosomia 10.1 LCAT INS
38 stiff-person syndrome 10.1 INS GAD1
39 non-alcoholic fatty liver disease 10.1
40 biotin deficiency 10.1 PC HLCS
41 early onset absence epilepsy 10.1
42 metabolic acidosis 10.1
43 epilepsy 10.1
44 biotinidase deficiency 10.1 PC HLCS
45 proteinuria, chronic benign 10.1
46 endometritis 10.1
47 coronary heart disease 1 10.0 LCAT INS
48 neu-laxova syndrome 2 10.0 GLUD1 GAD1
49 glycogen storage disease ia 10.0 PC INS
50 major affective disorder 8 10.0

Graphical network of the top 20 diseases related to Monocarboxylate Transporter 1 Deficiency:



Diseases related to Monocarboxylate Transporter 1 Deficiency
Sources

Symptoms & Phenotypes for Monocarboxylate Transporter 1 Deficiency

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Human phenotypes related to Monocarboxylate Transporter 1 Deficiency:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 global developmental delay 31 HP:0001263
3 feeding difficulties 31 HP:0011968
4 ketonuria 31 HP:0002919
5 ketoacidosis 31 HP:0001993
6 ketotic hypoglycemia 31 HP:0012734

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Metabolic Features:
ketotic hypoglycemia
ketoacidosis, severe
ketonuria, marked

Neurologic Central Nervous System:
intellectual disability, mild to moderate (in homozygotes)
developmental delay (in homozygotes)

Abdomen Gastrointestinal:
poor feeding
cyclic vomiting

Clinical features from OMIM®:

616095 (Updated 05-Mar-2021)

Sources

Drugs & Therapeutics for Monocarboxylate Transporter 1 Deficiency

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Drugs for Monocarboxylate Transporter 1 Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 106)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Metformin Approved Phase 4 657-24-9 14219 4091
2
Insulin glulisine Approved Phase 4 207748-29-6
3
Insulin glargine Approved Phase 4 160337-95-1
4 Insulin, Isophane Phase 4
5 Isophane Insulin, Human Phase 4
6 Isophane insulin, beef Phase 4
7 Insulin, Globin Zinc Phase 4
8 insulin Phase 4
9 Hypoglycemic Agents Phase 4
10 Hormones Phase 4
11 Hormone Antagonists Phase 4
12 Dipeptidyl-Peptidase IV Inhibitors Phase 4
13 Sitagliptin Phosphate Phase 4
14 HIV Protease Inhibitors Phase 4
15
protease inhibitors Phase 4
16 Incretins Phase 4
17 2-(3-(4-ethoxybenzyl)-4-chlorophenyl)-6-hydroxymethyltetrahydro-2H-pyran-3,4,... Phase 4
18 Sodium-Glucose Transporter 2 Inhibitors Phase 4
19 Pharmaceutical Solutions Phase 4
20
Nicotinamide Approved, Investigational Phase 2 98-92-0 936
21
Aspirin Approved, Vet_approved Phase 2 50-78-2 2244
22
Temozolomide Approved, Investigational Phase 1, Phase 2 85622-93-1 5394
23
Thiamine Approved, Investigational, Nutraceutical, Vet_approved Phase 2 70-16-6, 59-43-8 1130
24
Niacin Approved, Investigational, Nutraceutical Phase 2 59-67-6 938
25
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
26 Thiamin Phase 2
27 Trace Elements Phase 2
28 Vitamins Phase 2
29 Micronutrients Phase 2
30 Nutrients Phase 2
31 Vitamin B Complex Phase 2
32 Lipid Regulating Agents Phase 2
33 Vitamin B3 Phase 2
34 Hypolipidemic Agents Phase 2
35 Antimetabolites Phase 2
36 Nicotinic Acids Phase 2
37 Folate Phase 2
38 Vitamin B9 Phase 2
39 Vasodilator Agents Phase 2
40 Alkylating Agents Phase 1, Phase 2
41
Stevioside Phase 1 57817-89-7 442089
42 Denatonium Phase 1
43 Stevia Phase 1
44
Chromium Approved 7440-47-3 27668
45
Ursodeoxycholic acid Approved, Investigational 128-13-2 31401
46
Sodium citrate Approved, Investigational 68-04-2
47
Potassium citrate Approved, Investigational, Vet_approved 866-84-2
48
Calcium carbonate Approved, Investigational 471-34-1
49
Pioglitazone Approved, Investigational 111025-46-8 4829
50 Tomato Approved

Interventional clinical trials:

(show top 50) (show all 114)
# Name Status NCT ID Phase Drugs
1 Ketosis-Prone Diabetes in African Americans: Predictive Markers, Underlying Mechanisms, and Treatment Outcomes: The Effects of Metformin vs. Sitagliptin on Beta-Cell Preservation in Obese Subjects With Ketosis-Prone Type 2 Diabetes Mellitus Completed NCT01099618 Phase 4 metformin;placebo;Sitagliptin
2 Basal Insulin in the Management of Patients With Diabetic Ketoacidosis Completed NCT00590044 Phase 4 insulin glargine+ glulisine;NPH + Regular insulin
3 Early Basal Insulin Administration in Adult Diabetic Ketoacidosis Management Recruiting NCT04567225 Phase 4 Glargine;Glargine
4 A Randomized Study to Evaluate the Metabolic Responses of Adding Dapagliflozin Versus Sitagliptin to Chinese Patients With Type 2 Diabetes Inadequately Controlled With Insulin Therapy (DISTINCTION Study) Recruiting NCT03959501 Phase 4 Dapagliflozin 10 mg;Sitagliptin 100mg
5 Management of Diabetic Ketoacidosis in Children: Does Early Glargine Prevent Rebound Hyperglycemia? Recruiting NCT03107208 Phase 4 Glargine
6 A Single-center Randomized Double Blinded Control Trial of Intravenous Fluid Content in Children With Diabetic Ketoacidosis Admitted to the Pediatric Intensive Care Unit Suspended NCT03066440 Phase 4 Normal saline;Lactated Ringers
7 Internet Administration of the Modified Atkins Diet for Adults With Intractable Epilepsy Completed NCT00436631 Phase 3
8 Fluid Therapy and Cerebral Injury in Pediatric Diabetic Ketoacidosis Completed NCT01365793 Phase 3 0.45% saline replacement fluid;0.9% saline replacement fluid;0.45% saline intravenous fluid;0.9% saline Intravenous fluid
9 A Phase 2-3, 6-12 Month, Double-blind, Randomized, Placebo-controlled, Parallel-group Study to Investigate the Effects of Daily Administration of AC-1204 in Subjects With Mild to Moderate Alzheimer's Disease Who Are APOE4(-) Withdrawn NCT01211782 Phase 2, Phase 3 caprylic triglyceride;long-chain triglyceride
10 Does a Ketogenic Diet Reduce Delirium in Intensive Care? Part 1: - A Feasibility Study to Test if a Ketogenic Diet Causes Ketosis in Patients on Intensive Care Unknown status NCT02763553 Phase 2
11 The Efficacy of Allogeneic Umbilical Cord Mesenchymal Stem Cell Transplantation to Treat New-onset Type 1 Diabetes With Diabetic Ketoacidosis Unknown status NCT02763423 Phase 2
12 Efficacy of Modified Atkins Diet Versus Ketogenic Diet in Children With Refractory Epilepsy Aged 1 Year to 18 Years: a Randomized Controlled Trial Completed NCT01983163 Phase 2
13 The University of Michigan PCOS Intervention Using Nutritional Ketosis Completed NCT03987854 Phase 1, Phase 2
14 Effects of Ketones on Cardiac Function and Oxygen Consumption in Heart Failure Patients With Reduced Ejection Fraction and Healthy Test Subjects Completed NCT03073356 Phase 2
15 A Pilot Study of Ketogenic Diet and Metformin in Glioblastoma: Feasibility and Metabolic Imaging Recruiting NCT04691960 Phase 2 Metformin
16 Acute Effects of Exogenous Ketone Ester Administration in Heart Failure Recruiting NCT04633460 Phase 2
17 Comparison of the Short-Term Effect of Dietary Carbohydrate Restriction Versus Exogenous Ketone Supplementation on Myocardial Glucose Suppression and Timing to Achieve a State of Ketosis Using FDG PET/CT Serial Imaging Recruiting NCT04275453 Phase 1, Phase 2 FDG
18 Ketone Administration in Patients With Pulmonary Hypertension - Effects on Hemodynamics Recruiting NCT04615754 Phase 2
19 Thiamine as Adjunctive Therapy for Diabetic Ketoacidosis Recruiting NCT03717896 Phase 2 200mg IV thiamine in 50mL 0.9% saline;Placebo
20 Modulation of Circulating Levels of the Ketone Body 3-hydroxybutyrate in Patients With Chronic Heart Failure: Cardiovascular and Metabolic Effects Recruiting NCT04443426 Phase 2
21 Effects of Ketones and Niacin in Heart Failure Patients Not yet recruiting NCT04703361 Phase 2
22 Phase I/II Prospective Trial for Newly Diagnosed GBM, With Upfront Gross or Subtotal Resection, Followed by Ketogenic Diet With Radiotherapy and Concurrent Temodar(R) Chemotherapy Followed by Adjuvant Temodar(R) Chemotherapy. Terminated NCT02046187 Phase 1, Phase 2 Temozolomide
23 Anti-IL-1 Treatment in Children Diabetic Keto-Acidosis (DKA) at Diagnosis of Type 1 Diabetes. Withdrawn NCT01477476 Phase 2 Anakinra
24 Use of the Atkins Diet for Adolescents With Chronic Daily Headache. Completed NCT00181064 Phase 1
25 KETOCOGNITION - Effects of Ketone Bodies on Cognition in Type 2 Diabetes Completed NCT03657537 Phase 1 Ketone infusion;Saline infusion
26 IIT2016-17-HU-KETORADTMZ: A Phase 1 Study of a 4-month Ketogenic Diet in Combination With Standard-of-care Radiation and Temozolomide for Patients With Newly/Recently Diagnosed Glioblastoma Recruiting NCT03451799 Phase 1 Standard-of-care Temozolomide
27 Acute Effects of Medium Chain Triglyceride (MCT) Nutritional Ketosis on Parkinson's Disease (PD) Symptoms and Biomarkers (MCT-PD) Recruiting NCT04584346 Phase 1
28 A Phase 1, Crossover, Pharmacokinetic Study of Nutritional Ketosis on Exercise Capacity, Metabolic Adaptations, and Myocardial Function in Chronic Ambulatory Heart Failure Not yet recruiting NCT04370600 Phase 1 beta hydroxybutyrate (BHB) ester;Placebo
29 A Randomized, Double-Blinded, Placebo-controlled, Single-center Phase 1 Pilot Study to Explore the Effect of DAPAglifozin and Stress ( i.v. ACTH) on the Development of DKA After Insulin Withdrawal in Adolescent and Adult Subjects With T1D Not yet recruiting NCT04234867 Phase 1 Dapagliflozin;Placebo oral tablet
30 Incidence of Postoperative Ketosis and Metabolic Acidosis Unknown status NCT01860001
31 Therapeutic Education in Very Young Children With Diabetes Mellitus. Evaluation of the Impact of a Specific Tool for Parents on Glycemic Control and Prevention of Acute Events (Hypoglycemia and Ketosis) Unknown status NCT01354288
32 Ketosis, Vascular Inflammation, and Its Therapy (Chromium Supplementation) in Diabetic Patients Unknown status NCT01709123 chromium niacinate;placebo
33 Measurement of the Optic Nerve Sheath Diameter by Optic Ultrasound in Diabetic Ketoacidosis and the Relationship to Cerebral Edema Unknown status NCT02130180
34 Compliance With American Diabetes Association Treatment Guidelines for Adult Ketoacidosis Unknown status NCT00589680
35 Effects of Exogenous Ketones in Healthy Young Adults Completed NCT03452761
36 A 2-week Course of Enteral Treatment With a Very Low-calorie Protein-based Formula for the Management of Severe Obesity Completed NCT01965990
37 Use of the Atkins Diet for Adults With Intractable Epilepsy Completed NCT00121927
38 Ketosis Prone Diabetes Mellitus in African-Americans: Insulin Signaling, Proteomics, and Outcomes Completed NCT00426413 pioglitazone
39 Market Research - Acceptability Study for a Range of New MCT Based Products (Dr Schär - Kanso) Kanso DeliMCT 53% (Cream) Kanso DeliMCT 28% (Tomato or Mushroom) Kanso DeliMCT 21% (Cacaobar) Completed NCT04309214
40 Market Research - Acceptability Study for a Range of New MCT Based Products (Dr Schär - Kanso MCT) Kanso MCT 100% Oil Kanso MCT 77% Oil Kanso MCT 83% Margarine Completed NCT04309149
41 Relationship Among Breath Acetone, Blood Beta-Hydroxybutyrate, and Blood Glucose Completed NCT03299543
42 A Multi-Center, Two-Arm, Single-Blind Randomized Trial of IV Fluids During Labor Completed NCT01110005
43 Ketone Bodies Ingested Orally Alter Metabolism for Glucose, Lipid, and Protein Completed NCT02917252
44 Dietary Ketosis a Metabolic Sister to Calorie Restriction (CR): Fatty Acids Activate AMPK Energy Circuits Modulating Global Methylation Via the SAM/SAH Axis Completed NCT03319173
45 Accu-Chek® Insight Insulin Pump EU Study: A European Multicenter Study to Evaluate the Accu-Chek® Insight Insulin Pump in Routine Practice Completed NCT02105103
46 Wahls Paleo Diet and Progressive Multiple Sclerosis Completed NCT01915433
47 Effects of Exercise and Dietary Inatke on Muscle Metabolism and Inflammatory Status Modulated by Oxygen Free Radicals and Cytokines in Humans Completed NCT03114176
48 A Mixed Methods Pilot Study of a Low-Carbohydrate Diabetes Prevention Program Among Individuals With Prediabetes Completed NCT03258918
49 A Ketogenic Diet Normalizes Interictal Cortical But Not Subcortical Responsivity in Migraineurs Completed NCT03775252
50 Efficacy, Tolerability and Adherence of the Modified Atkins Diet on Drug-resistant Epilepsy in Adults Patients Completed NCT03183076 Pharmacotherapy without diet

Search NIH Clinical Center for Monocarboxylate Transporter 1 Deficiency

Cochrane evidence based reviews: ketosis

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Genetic Tests for Monocarboxylate Transporter 1 Deficiency

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Genetic tests related to Monocarboxylate Transporter 1 Deficiency:

# Genetic test Affiliating Genes
1 Monocarboxylate Transporter 1 Deficiency 29 SLC16A1
Sources

Anatomical Context for Monocarboxylate Transporter 1 Deficiency

About this section

MalaCards organs/tissues related to Monocarboxylate Transporter 1 Deficiency:

40
Liver, Brain, Kidney, Heart, Endothelial
Sources

Publications for Monocarboxylate Transporter 1 Deficiency

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Articles related to Monocarboxylate Transporter 1 Deficiency:

(show top 50) (show all 102)
# Title Authors PMID Year
1
Monocarboxylate transporter 1 deficiency and ketone utilization. 61 57
25390740 2014
2
The neuroimaging findings of monocarboxylate transporter 1 deficiency. 61
32318771 2020
3
Monocarboxylate transporter-1 deficiency results in severe metabolic acidosis with ketogenic diet in early onset absence epilepsy: Case report. 61
31812089 2020
4
Monocarboxylate transporter 1 deficiency and ketone utilization. 61
25651260 2015
5
Monocarboxylate transporter 1 deficiency and ketone utilization. 61
25651261 2015
6
Monocarboxylate transporter 1 deficiency and ketone utilization. 61
25651259 2015
7
Low cortisol levels in blood from dairy cows with ketosis: a field study. 54
20487518 2010
8
Effects of intravenous glucose load on insulin secretion in patients with ketosis-prone diabetes during near-normoglycemia remission. 54
20067967 2010
9
Lack of lipotoxicity effect on {beta}-cell dysfunction in ketosis-prone type 2 diabetes. 54
20028938 2010
10
[Fulminant type 1 diabetes mellitus]. 54
20408439 2010
11
Lecithin cholesterol acyltransferase (LCAT) activity as a predictor for ketosis and parturient haemoglobinuria in Egyptian water buffaloes. 54
19682715 2010
12
The influence of liberal alcohol consumption on glucose metabolism in patients with type 1 diabetes: a pilot study. 54
19098076 2009
13
[Changes of lipoproteins during insulin therapy in diabetes mellitus type 1]. 54
19702119 2009
14
Atypical onset of diabetes in a teenage girl: a case report. 54
19116001 2008
15
People with type 1 diabetes using short acting analogue insulins are less dehydrated than those with using human soluble insulin prior to onset of diabetic ketoacidosis. 54
18694627 2008
16
The CTLA4 -819 C/T and +49 A/G dimorphisms are associated with Type 1 diabetes in Egyptian children. 54
20300303 2008
17
Treatment of diabetes mellitus using an external insulin pump in clinical practice. 54
18951117 2008
18
Ketosis-prone type 2 diabetes mellitus and human herpesvirus 8 infection in sub-saharan africans. 54
18560004 2008
19
[Diabetic ketoacidosis in adults--update of an old complication]. 54
18209885 2007
20
A morning dose of insulin glargine prevents nocturnal ketosis after postprandial interruption of continuous subcutaneous insulin infusion with insulin lispro. 54
18032083 2007
21
[Switching of NPH insulin to glargine therapy in a cohort of diabetic patients: observational study]. 54
17546241 2007
22
Metabolic control with insulin pump therapy: the Waikato experience. 54
17277817 2007
23
Safety and efficacy of blood glucose management practices at a diabetes camp. 54
16972974 2006
24
[Dietary management of diabetic pregnancy]. 54
17111716 2006
25
Performance of the continuous glucose monitoring system (CGMS) during development of ketosis in patients on insulin pump therapy. 54
16978378 2006
26
Juvenile fibrocalculous pancreatopathy--a patient report. 54
16995576 2006
27
Detection of ketonemia and its relationship with hyperglycemia in type 1 diabetic patients. 54
16297489 2006
28
Sick day management using blood 3-hydroxybutyrate (3-OHB) compared with urine ketone monitoring reduces hospital visits in young people with T1DM: a randomized clinical trial. 54
16492211 2006
29
[Secondary forms of diabetes mellitus associated with endocrine diseases]. 54
16035309 2005
30
Inhibition of glucagon secretion. 54
16492545 2005
31
Patients homozygous for the T435N mutation of succinyl-CoA:3-ketoacid CoA Transferase (SCOT) do not show permanent ketosis. 54
15496607 2004
32
Autoimmunity to islet proteins in children diagnosed with new-onset diabetes. 54
15126545 2004
33
[Clinical characteristics and outcome of adult diabetic patients with ketosis as the initial manifestation: a follow-up study]. 54
15132798 2004
34
The therapeutic implications of ketone bodies: the effects of ketone bodies in pathological conditions: ketosis, ketogenic diet, redox states, insulin resistance, and mitochondrial metabolism. 54
14769489 2004
35
[Subclassification of seronegative type 1 diabetic subjects with HLA-DQ genotypes]. 54
15059369 2004
36
Glucose and insulin requirements during labor and delivery: the case for normoglycemia in pregnancies complicated by diabetes. 54
15251639 2004
37
The effects of a single injection of dexamethasone-21-isonicotinate on the lymphocyte functions of dairy cows at two weeks post partum. 54
15099507 2004
38
Tropical chronic pancreatitis. 54
14654569 2003
39
Extreme subcutaneous insulin resistance: a misunderstood syndrome. 54
14631332 2003
40
Metabolic syndrome and low-carbohydrate ketogenic diets in the medical school biochemistry curriculum. 54
18370662 2003
41
[Value of glutamic acid decarboxylase autoantibody detection for early diagnosis of latent autoimmune diabetes in adults]. 54
12919925 2003
42
Tropical chronic pancreatitis: an update. 54
12642742 2003
43
Accuracy of an electrochemical sensor for measuring capillary blood ketones by fingerstick samples during metabolic deterioration after continuous subcutaneous insulin infusion interruption in type 1 diabetic patients. 54
12663586 2003
44
[A 50-year history of new drugs in Japan-the development and progress of anti-diabetic drugs and the epidemiological aspects of diabetes mellitus]. 54
14570054 2003
45
Clinical and biochemical profiles of young diabetics in North-Eastern India. 54
12516694 2002
46
[Sports and type I diabetes: personal experience]. 54
12422437 2002
47
Molecular mechanisms involved in the etiopathogenesis of malnutrition-modulated diabetes mellitus. 54
12021093 2002
48
Autoantibodies to tissue transglutaminase in patients from eastern India with malnutrition-modulated diabetes mellitus, insulin-dependent diabetes mellitus, and non-insulin-dependent diabetes mellitus. 54
12021113 2002
49
Beta cell rest and recovery--does it bring patients with latent autoimmune diabetes in adults to euglycemia? 54
12021087 2002
50
Pathogenic mechanism, prophylaxis, and therapy of symptomatic acidosis induced by acetazolamide. 54
11928941 2002
Sources

Variations for Monocarboxylate Transporter 1 Deficiency

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ClinVar genetic disease variations for Monocarboxylate Transporter 1 Deficiency:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC16A1 NM_003051.4(SLC16A1):c.1079del (p.Ala360fs) Deletion Likely pathogenic 800884 rs1570619302 1:113459949-113459949 1:112917327-112917327
2 SLC16A1 NM_001166496.1(SLC16A1):c.41dup (p.Asp15fs) Duplication Uncertain significance 160369 rs606231309 1:113471889-113471890 1:112929267-112929268

UniProtKB/Swiss-Prot genetic disease variations for Monocarboxylate Transporter 1 Deficiency:

73
# Symbol AA change Variation ID SNP ID
1 SLC16A1 p.Arg313Gln VAR_072428 rs606231302

Sources

Expression for Monocarboxylate Transporter 1 Deficiency

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Search GEO for disease gene expression data for Monocarboxylate Transporter 1 Deficiency.
Sources

Pathways for Monocarboxylate Transporter 1 Deficiency

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Pathways related to Monocarboxylate Transporter 1 Deficiency according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Metabolism 65
Show member pathways
 12.93 SLC16A1 PC OXCT1 LCAT INS HLCS
2
Glucose / Energy Metabolism 4
12.03 INS GLUD1 GAD1
3
Butanoate metabolism 36
Show member pathways
 10.9 OXCT1 GAD1
4
Alanine, aspartate and glutamate metabolism 36
10.82 GLUD1 GAD1
5
Alanine and aspartate metabolism 1
Show member pathways
 10.27 PC GAD1
6
Taurine and hypotaurine metabolism 36
10 GGT1 GAD1
Sources

GO Terms for Monocarboxylate Transporter 1 Deficiency

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Biological processes related to Monocarboxylate Transporter 1 Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.56 SLC16A1 PC LCAT GGT1
2 cellular amino acid metabolic process GO:0006520 9.32 GLUD1 GGT1
3 pyruvate metabolic process GO:0006090 9.16 SLC16A1 PC
4 biotin metabolic process GO:0006768 8.96 PC HLCS
5 glutamate catabolic process GO:0006538 8.62 GLUD1 GAD1

Molecular functions related to Monocarboxylate Transporter 1 Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.17 SLC16A1 PC OXCT1 INS IAPP HLCS
2 biotin binding GO:0009374 8.96 PC HLCS
Sources

Sources for Monocarboxylate Transporter 1 Deficiency

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
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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