HADH DEFICIENCY
MCID: 3HY005
MIFTS: 63

3-Hydroxyacyl-Coa Dehydrogenase Deficiency (HADH DEFICIENCY)

Categories: Genetic diseases, Liver diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

MalaCards integrated aliases for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency:

Name: 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 57 75 25 59 37 13 40 72
Deficiency of 3-Hydroxyacyl-Coa Dehydrogenase 25 29 6
Hadh Deficiency 57 25 74
Metabolic Diseases 44 72
Schad Deficiency 25 74
Had Deficiency 25 74
L-3-Alpha-Hydroxyacyl-Coa Dehydrogenase, Short Chain, Deficiency 25
3-Alpha-Hydroxyacyl-Coenzyme a Dehydrogenase Deficiency 25
3-Hydroxyacyl-Coenzyme a Dehydrogenase Deficiency 25
3-Alpha-Hydroxyacyl-Coa Dehydrogenase Deficiency 74
Hydroxyacyl-Coenzyme a Dehydrogenase Deficiency 74
Schad Deficiency, Formerly 57
M/schad Deficiency 25
Hadhsc Deficiency 25

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
highly variable phenotype
sudden infant death may occur


HPO:

32
3-hydroxyacyl-coa dehydrogenase deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Inborn errors of metabolism


External Ids:

OMIM 57 231530
KEGG 37 H01364
MeSH 44 D008659
ICD10 via Orphanet 34 E71.3
UMLS via Orphanet 73 C1291230
Orphanet 59 ORPHA309127
MedGen 42 C1291230
UMLS 72 C0025517 C1291230

Summaries for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

Genetics Home Reference : 25 3-hydroxyacyl-CoA dehydrogenase deficiency is an inherited condition that prevents the body from converting certain fats to energy, particularly during prolonged periods without food (fasting). Initial signs and symptoms of this disorder typically occur during infancy or early childhood and can include poor appetite, vomiting, diarrhea, and lack of energy (lethargy). Affected individuals can also have muscle weakness (hypotonia), liver problems, low blood sugar (hypoglycemia), and abnormally high levels of insulin (hyperinsulinism). Insulin controls the amount of sugar that moves from the blood into cells for conversion to energy. Individuals with 3-hydroxyacyl-CoA dehydrogenase deficiency are also at risk for complications such as seizures, life-threatening heart and breathing problems, coma, and sudden death. This condition may explain some cases of sudden infant death syndrome (SIDS), which is defined as unexplained death in babies younger than 1 year. Problems related to 3-hydroxyacyl-CoA dehydrogenase deficiency can be triggered by periods of fasting or by illnesses such as viral infections. This disorder is sometimes mistaken for Reye syndrome, a severe disorder that may develop in children while they appear to be recovering from viral infections such as chicken pox or flu. Most cases of Reye syndrome are associated with the use of aspirin during these viral infections.

MalaCards based summary : 3-Hydroxyacyl-Coa Dehydrogenase Deficiency, also known as deficiency of 3-hydroxyacyl-coa dehydrogenase, is related to mitochondrial trifunctional protein deficiency and fatty liver disease, nonalcoholic 1, and has symptoms including emaciation An important gene associated with 3-Hydroxyacyl-Coa Dehydrogenase Deficiency is HADH (Hydroxyacyl-CoA Dehydrogenase), and among its related pathways/superpathways are Fatty acid elongation and Fatty acid degradation. The drugs Glucagon and Midazolam have been mentioned in the context of this disorder. Affiliated tissues include bone, liver and heart, and related phenotypes are feeding difficulties in infancy and hypertrophic cardiomyopathy

KEGG : 37
3-Hydroxyacyl-CoA dehydrogenase (HADH, SCHAD) deficiency is an autosomal recessive metabolic disorder, resulting from mutations in the HADH gene. HADH deficiency is one of the mitochondrial fatty acid oxidation disorder that has been the most recently described only in a few patients. The clinical phenotype of most patients that have been described is recurrent hypoglycemia associated with hyperinsulinism.

UniProtKB/Swiss-Prot : 74 3-alpha-hydroxyacyl-CoA dehydrogenase deficiency: An autosomal recessive, metabolic disorder with various clinical presentations including hypoglycemia, hepatoencephalopathy, myopathy or cardiomyopathy, and in some cases sudden death.

Wikipedia : 75 3-hydroxyacyl-coenzyme A dehydrogenase deficiency is a rare condition that prevents the body from... more...

More information from OMIM: 231530

Related Diseases for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

Diseases related to 3-Hydroxyacyl-Coa Dehydrogenase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1635)
# Related Disease Score Top Affiliating Genes
1 mitochondrial trifunctional protein deficiency 31.4 HADHB HADHA GAREM2
2 fatty liver disease, nonalcoholic 1 30.6 MTTP HADHA
3 hyperinsulinism 30.5 HADH GLUD1 GCK
4 acyl-coa dehydrogenase, medium-chain, deficiency of 30.5 HADHA ACADVL ACADM
5 d-bifunctional protein deficiency 30.3 HADHB HADH
6 acyl-coa dehydrogenase, very long-chain, deficiency of 30.2 HADHB HADHA HADH ACADVL
7 hyperinsulinemic hypoglycemia 30.1 HADH GLUD1 GCK
8 long-chain 3-hydroxyacyl-coa dehydrogenase deficiency 30.1 VIM MTTP KRT8 HSD17B10 HADHB HADHA
9 reye syndrome 30.0 HADHA ACADM
10 carnitine palmitoyltransferase ii deficiency, infantile 30.0 HADHB ACADVL
11 carnitine palmitoyltransferase i deficiency 30.0 HADHA HADH ACADVL
12 hypoglycemia 30.0 HADH GLUD1 GCK ACADVL ACADM
13 abetalipoproteinemia 29.9 MTTP HADHB HADHA
14 endocrine pancreas disease 29.7 HADH GCK
15 hyperinsulinemic hypoglycemia, familial, 6 29.7 HADHA HADH GLUD1
16 obsolete: short chain 3-hydroxyacyl-coa dehydrogenase deficiency 12.8
17 mineral metabolism disease 12.4
18 iron metabolism disease 12.3
19 other metabolic disease 12.3
20 mitochondrial metabolism disease 12.2
21 plasma protein metabolism disease 12.2
22 histidine metabolism disease 12.2
23 metabolic disease due to other fatty acid oxidation disorder 12.2
24 acquired metabolic disease 12.1
25 glucose metabolism disease 12.1
26 3-alpha hydroxyacyl-coa dehydrogenase deficiency 12.1
27 phosphorus metabolism disease 12.1
28 secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease 12.1
29 secondary interstitial lung disease specific to childhood associated with a metabolic disease 12.1
30 metabolic diseases with epilepsy 12.1
31 non-rare metabolic disease 12.1
32 rare hereditary metabolic disease with peripheral neuropathy 12.1
33 amino acid or protein metabolism disease with epilepsy 12.1
34 other metabolic disease with epilepsy 12.1
35 other metabolic disease with skin involvement 12.1
36 metabolic disease involving other neurotransmitter deficiency 12.1
37 metabolic disease with skin involvement 12.1
38 obsolete: miscellaneous metabolic disease associated with bone anomaly 12.1
39 nephropathy secondary to a storage or other metabolic disease 12.1
40 metabolic disease with cataract 12.1
41 obsolete: metabolic disease with pigmentary retinitis 12.1
42 obsolete: metabolic disease with macular cherry-red spot 12.1
43 obsolete: metabolic disease with corneal opacity 12.1
44 obsolete: metabolic disease with cataract 12.1
45 obsolete: metabolic disease associated with ocular features 12.1
46 metabolic disease with dementia 12.1
47 metabolic disease with intestinal involvement 12.1
48 hyperinsulinemic hypoglycemia, familial, 4 11.5
49 amyloidosis 11.4
50 galactosemia 11.4

Comorbidity relations with 3-Hydroxyacyl-Coa Dehydrogenase Deficiency via Phenotypic Disease Network (PDN):


Acute Cystitis Deficiency Anemia
Encephalopathy Heart Disease

Graphical network of the top 20 diseases related to 3-Hydroxyacyl-Coa Dehydrogenase Deficiency:



Diseases related to 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

Symptoms & Phenotypes for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

Human phenotypes related to 3-Hydroxyacyl-Coa Dehydrogenase Deficiency:

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 feeding difficulties in infancy 32 HP:0008872
2 hypertrophic cardiomyopathy 32 HP:0001639
3 generalized hypotonia 32 HP:0001290
4 growth delay 32 HP:0001510
5 hepatic steatosis 32 HP:0001397
6 dilated cardiomyopathy 32 HP:0001644
7 myoglobinuria 32 HP:0002913
8 hypoglycemic seizures 32 HP:0002173
9 hypoketotic hypoglycemia 32 HP:0001985
10 dicarboxylic aciduria 32 HP:0003215
11 decreased activity of 3-hydroxyacyl-coa dehydrogenase 32 HP:0100950
12 hypoglycemic encephalopathy 32 HP:0006929
13 hepatic necrosis 32 HP:0002605
14 fulminant hepatic failure 32 HP:0004448

Symptoms via clinical synopsis from OMIM:

57
Laboratory Abnormalities:
hypoglycemia
dicarboxylic aciduria
myoglobinuria (reported in 1 patient)
decreased activity of 3-hydroxyacyl-coa dehydrogenase in various tissues (liver, muscle, fibroblasts)
some tissues may have normal levels of 3-hydroxyacyl-coa dehydrogenase activity

Muscle Soft Tissue:
hypotonia

Growth Other:
poor growth

Neurologic Central Nervous System:
seizures, hypoglycemic
encephalopathy, hypoglycemic

Abdomen Liver:
hepatic steatosis
hepatic necrosis
fulminant hepatic failure (reported in 1 patient)

Abdomen Gastrointestinal:
poor feeding

Cardiovascular Heart:
dilated cardiomyopathy (reported in 1 patient)
hypertrophic cardiomyopathy (reported in 1 patient)

Metabolic Features:
hypoglycemia, hypoketotic

Clinical features from OMIM:

231530

UMLS symptoms related to 3-Hydroxyacyl-Coa Dehydrogenase Deficiency:


emaciation

MGI Mouse Phenotypes related to 3-Hydroxyacyl-Coa Dehydrogenase Deficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.8 ACADM ACADVL HADHA HADHB KRT8 MTTP
2 growth/size/body region MP:0005378 9.76 ACADVL GCK GLUD1 HADH HADHA HADHB
3 homeostasis/metabolism MP:0005376 9.65 ACADM ACADVL GCK GLUD1 HADH HADHA
4 liver/biliary system MP:0005370 9.17 ACADM ACADVL GCK HADHA HADHB KRT8

Drugs & Therapeutics for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

Drugs for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 529)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Glucagon Approved Phase 4 16941-32-5
2
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
3
Selenium Approved, Investigational, Vet_approved Phase 4 7782-49-2
4
Acarbose Approved, Investigational Phase 4 56180-94-0 441184
5
Methylcobalamin Approved, Experimental, Investigational Phase 4 13422-55-4
6
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
7
Glipizide Approved, Investigational Phase 4 29094-61-9 3478
8 fluindione Approved, Investigational Phase 4 957-56-2
9
Rivaroxaban Approved Phase 4 366789-02-8
10
Warfarin Approved Phase 4 81-81-2 6691 54678486
11
Dalteparin Approved Phase 4 9005-49-6
12
Metformin Approved Phase 4 657-24-9 4091 14219
13
Insulin glargine Approved Phase 4 160337-95-1
14
Sodium citrate Approved, Investigational Phase 4 68-04-2
15
Bezafibrate Approved, Investigational Phase 4 41859-67-0 39042
16
Insulin Aspart Approved Phase 4 116094-23-6 16132418
17
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
18
Lopinavir Approved Phase 4 192725-17-0 92727
19
Zidovudine Approved Phase 4 30516-87-1 35370
20
Bexarotene Approved, Investigational Phase 4 153559-49-0 82146
21
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
22
Tocopherol Approved, Investigational Phase 4 1406-66-2, 54-28-4 14986
23
Sertraline Approved Phase 4 79617-96-2 68617
24
Prucalopride Approved Phase 4 179474-81-8
25
Bisacodyl Approved Phase 4 603-50-9
26
Pamidronate Approved Phase 4 40391-99-9 4674
27
Potassium Citrate Approved, Investigational, Vet_approved Phase 4
28
Tadalafil Approved, Investigational Phase 4 171596-29-5 110635
29
Acetaminophen Approved Phase 4 103-90-2 1983
30
Oseltamivir Approved Phase 4 204255-11-8, 196618-13-0 65028
31
Ondansetron Approved Phase 4 99614-02-5 4595
32
Metoclopramide Approved, Investigational Phase 4 364-62-5 4168
33
Alendronate Approved Phase 4 66376-36-1, 121268-17-5 2088
34
Cinacalcet Approved Phase 4 226256-56-0 156419
35
Iron Approved, Experimental Phase 4 15438-31-0, 7439-89-6 23925 27284
36
Sofosbuvir Approved Phase 4 1190307-88-0 45375808
37
Liraglutide Approved Phase 4 204656-20-2 44147092
38
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
39
Cobicistat Approved Phase 4 1004316-88-4
40
Methadone Approved, Illicit Phase 4 76-99-3 4095
41
Velpatasvir Approved, Investigational Phase 4 1377049-84-7 67683363
42
Emtricitabine Approved, Investigational Phase 4 143491-57-0 60877
43
Calcium carbonate Approved, Investigational Phase 4 471-34-1
44
Methotrexate Approved Phase 4 1959-05-2, 59-05-2 126941
45
Exenatide Approved, Investigational Phase 4 141758-74-9 15991534
46
Serine Approved, Nutraceutical Phase 4 56-45-1 5951
47
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
48
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4 59-02-9 14985
49
gastric inhibitory polypeptide Investigational Phase 4 100040-31-1
50 Tocotrienol Investigational Phase 4 6829-55-6

Interventional clinical trials:

(show top 50) (show all 852)
# Name Status NCT ID Phase Drugs
1 Comparison of Oral 30 % Dextrose and iv Midazolam Sedation During MRI in Neonates Unknown status NCT02645279 Phase 4 IV midazolam
2 Effect of Multi-vitamins With Minerals on Uric Acid Metabolism in Subjects With Hyperuricemia: A Randomized, Double-blinded, Placebo-controlled Trail Unknown status NCT03218709 Phase 4
3 An Open-label, Randomized , Phase 4 Study to Compare the Different Efficacies of α-glucosidase Inhibitor and Sulfonylurea on Improvement of Intestinal Microbiome and Serum Incretins in Patients With Type 2 Diabetes Unknown status NCT01758471 Phase 4 Glipizide;Acarbose
4 Absorption and Utilization of a Mixed Meal in Type 1 Diabetes: Creation of a Biological and In Silico Biobank for the Optimization of Artificial Pancreas Systems. A Pilot Study. Unknown status NCT01800734 Phase 4
5 The VICTORIA Study (Vascular CalcIfiCation and sTiffness Induced by ORal antIcoAgulation) Comparison Anti-vitamin K Versus Anti-Xa. Unknown status NCT02161965 Phase 4 Rivaroxaban;Fluindione;Warfarin
6 A Multicenter Study to Evaluate the Efficacy of Yinzhihuang Oral Liquid on Indirect Bilirubin of Neonates With Glucose-6-phosphate Dehydrogenase Deficiency Unknown status NCT02594904 Phase 4 Yinzhihuang Oral Liquid
7 Open Label Study Evaluating The Use Of Combination Therapy Of Ezetimibe And Statins In Patients With Dyslipidemia In Colombia Completed NCT00651963 Phase 4 ezetimibe
8 A Comparison of Premixed and Basal-Bolus Insulin Intensification Therapies in Patients With Type 2 Diabetes Mellitus With Inadequate Glycaemic Control on Twice-daily Premixed Insulin Completed NCT01175811 Phase 4 Insulin Lispro Premix;Insulin Glargine;Insulin Lispro
9 One-Year Glargine-Treatment Can Ameliorate Clinical Features in Cystic Fibrosis Children and Adolescents With Glucose Derangements Completed NCT00483769 Phase 4 Glargine
10 Comparison of Twice-Daily Insulin Lispro Low Mixture Versus Once-Daily Basal Insulin Glargine and Once-Daily Prandial Insulin Lispro as Insulin Intensification Strategies in Patients With Type 2 Diabetes Who Have Inadequate Glycemic Control on Basal Insulin Glargine and Metformin and/or Pioglitazone Completed NCT01175824 Phase 4 Insulin Lispro Low Mixture (LM);Insulin Glargine;Prandial Insulin Lispro
11 A Long-Term, Open-Label, Prospective Phase IV Study to Assess the Safety and Efficacy of Nephoxil® in Subjects With End Stage Renal Disease (ESRD) on Dialysis Completed NCT03256838 Phase 4 Ferric Citrate
12 The Effect of Fibrate Therapy in Two Patients With Neutral Lipid Storage Disease With Myopathy (NLSDM) Completed NCT01527318 Phase 4 Fibrate treatment
13 Ezetimibe Reverse Cholesterol Transport (RCT) Pilot Study Completed NCT00701727 Phase 4 ezetimibe;Placebo
14 Cholecalciferol Supplementation for Anemia and Mineral and Bone Disorder in Hemodialysis Patients (CHAMBER): A Multicenter, Double-blind, Randomized, Placebo-controlled Trial Completed NCT02214563 Phase 4
15 A 3 Arm, Prospective Study to Compare the Effect of 6 Weeks Exposure to the Combination of Lopinavir (LPVr)/Combivir® (AZT/3TC) Versus Lopinavir Alone or Combivir® Alone in HIV-negative Healthy Subjects on the Development of Abnormalities of Lipid and Glucose Metabolism Completed NCT00192621 Phase 4 Combivir (zidovudine [AZT] / lamivudine [3TC]);Kaletra (lopinavir [LPVr])
16 Estimation of Carbohydrate Metabolism Disorder Frequency in Hypertriglyceridemia Induced by Bexarotene Treatment of Cutaneous T Cell Lymphoma - Pilote Study Completed NCT01569724 Phase 4
17 A 12-week, Multicenter, Double-blind, Double-dummy, Randomized, Active-controlled, Parallel-group Study to Assess the Efficacy and Safety of Fluvastatin Sodium Extended Release Tablets 80 mg Once Daily Compared to Fluvastatin Sodium Immediate Release Capsules 40 mg Twice Daily (BID) in Chinese Patients With Primary Hypercholesterolemia or Mixed Dyslipidemia at Moderate or High Cardiovascular Risk Who Did Not Achieve Their Lipid Goals When Treated With Fluvastatin Sodium Immediate Release Capsules 40 mg QD Completed NCT01551173 Phase 4 Fluvastatin sodium
18 Effect of Anthocyanins on Metabolic Profiles in Subjects With Pre-diabetes: A Randomized, Double-blind, Placebo-controlled Study Completed NCT02689765 Phase 4
19 How Does Magnesium Status Influence Calcium Homeostasis? Completed NCT01593501 Phase 4
20 Effects of an Individualized Training Program on Cardiovascular Function at Rest and During Exercise in Obese and in Type 2 Diabetic Subjects Completed NCT00264589 Phase 4
21 A Randomized, Double‐Blind, Placebo Controlled Trial to Evaluate the Effects of Vitamin D Supplementation on Metabolic and Fertility Parameters in PCOS Women Completed NCT01721915 Phase 4 Vitamin D supplementation;Placebo
22 The Effect of Insulin Degludec on Risk of Symptomatic Nocturnal Hypoglycaemia in Subjects With Type 1 Diabetes and High Risk of Nocturnal Severe Hypoglycaemia Completed NCT02192450 Phase 4 Insulin aspart/glargine;Insulin aspart/degludec
23 GLP-1 Agonism Stimulates Browning of Subcutaneous White Adipose Tissue in Obesity Men Completed NCT02170324 Phase 4 Exenatide;Placebo
24 Effects of Insulin Sensitizers in Subjects With Impaired Glucose Tolerance Completed NCT00108615 Phase 4 Metformin;Pioglitazone;Metformin;Pioglitazone
25 Improving Depression Treatment Outcomes With an Insulin-Sensitizing Agent Completed NCT00834652 Phase 4 Sertraline;Metformin
26 An Open-label, Randomised, Crossover, Reader Blinded, Study to Compare the Effect of Polyethylene Glycol 3350, Bisacodyl and Prucalopride on Colonic Motility Assessed With Intraluminal Colonic Manometry in Healthy Subjects Completed NCT03279341 Phase 4 polyethylene glycol;Bisacodyl;Prucalopride
27 Prospective, Randomized, Double-Blind, Placebo-Controlled Trial to Evaluate the Efficacy of Disodium Pamidronate in the Treatment of Bone Loss Associated With Liver Transplant Completed NCT00657852 Phase 4 Disodium pamidronate;Placebo
28 Moderated-fat Diet Complemented With Green Tea Reduces oxLDL and Fat Mass in Obese Women: A Randomized, Controlled Clinical Trial Completed NCT01628705 Phase 4
29 Effects of Daily Tadalafil on Body Composition in Men With Sexual Distress Completed NCT02554045 Phase 4 Tadalafil;Placebo
30 Is Paracetamol an Effective Treatment for Chronic Moderate Pain in the Newborn After Operative Vaginal Delivery? Completed NCT00488540 Phase 4 Paracetamol;Placebos
31 Characterisation of the Human Carboxylesterase 1 (CES1) Mutation(s) Which May be Responsible for Markedly Reduced Conversion of Oseltamivir Phosphate to Oseltamivir Carboxylate Completed NCT01443806 Phase 4 Oseltamivir
32 Ondansetron Vs Metoclopramide in the Treatment of Vomiting in Gastroenteritis Patients: A Randomized Controlled Trial Completed NCT01165866 Phase 4 Treatment 1. Metoclopramide;Treatment 2 Ondansetron
33 A Randomized Placebo Controlled Double Blind Investigation of the Effects of Potassium Citrate on Bone Metabolism in Postmenopausal Osteopenia Completed NCT00357331 Phase 4 potassium citrate
34 Metabolic and Vascular Effects of Silybin in Hypertensive Patients With High One-hour Post-load Plasma Glucose: a Single Arm Pilot Study Completed NCT03538327 Phase 4 Silybin
35 Efficacy of a Calcimimetic (Cinacalcet) in the Long Term Control of Patients With Primary Hyperparathyroidism Completed NCT02417389 Phase 4 cinacalcet;Alendronate
36 A Double Blind Randomised Placebo-controlled Trial to Assess the Effect of a Single Administration of Ferric Carboxymaltose of 1000 mg Iron on Glucose Homeostasis, in Iron-deficient Non-anaemic Women of Childbearing Age. Recruiting NCT03191201 Phase 4 Ferric Carboxymaltose;0.9% sodium chloride solution
37 Impact of Liraglutide 3.0 on Body Fat Distribution, Visceral Adiposity, and Cardiometabolic Risk Markers In Overweight and Obese Adults at High Risk for Cardiovascular Disease Recruiting NCT03038620 Phase 4 Liraglutide;Placebo
38 Effect of Vitamin D3 Supplementation on Arterial and Bone Remodeling in Chronic Kidney Disease Patients Recruiting NCT02999204 Phase 4 Vitamin D3
39 Evaluation of Elvitegravir/Cobicistat/Emtricitabine/Tenofovir Alafenamide (ECF/TAF) Switch Followed by Sofosbuvir/Velpatasvir (SOF/VEL) Antiviral HCV Therapy in HIV-HCV Co-Infected Subjects on Opioid Substitution Therapy Recruiting NCT03549312 Phase 4 Genvoya;Epclusa
40 Lanthanum Carbonate Versus Calcium Carbonate for Vascular Abnormalities in Patients With Chronic Kidney Disease and Hyperphosphatemia Enrolling by invitation NCT02237534 Phase 4 Lanthanum carbonate;Calcium Carbonate
41 Metformin for Treatment of Psoriasis Combined With Disorders of Glucose and Lipid Metabolism: A Double-Blind, Randomized, Placebo-Controlled Study Not yet recruiting NCT03629639 Phase 4 Metformin
42 Pilot Study of Extended-release Exenatide to Improve Glucose Control and Reduce Systemic Inflammation in Diabetic, HIV-infected Adults on Antiretroviral Therapy Terminated NCT01791465 Phase 4 extended-release exenatide
43 Fixed Combination for Lipid and Blood Pressure Control. Randomized Cross-over Study Withdrawn NCT03047538 Phase 4 Atorvastatin, Amlodipine, Perindopril
44 A Single-arm Evaluation of the Effect of Elbasvir/Grazoprevir on Cardiometabolic Parameters in Patients With Hepatitis C Infection and Underlying Metabolic Disease Withdrawn NCT03585101 Phase 4 Elbasvir/grazoprevir
45 Effect of Pioglitazone on Intima Media Thickness, Endothelial Function, and Heart Rate Variability in Patients With Impaired Glucose Tolerance Withdrawn NCT00306826 Phase 4 pioglitazone;simvastatin;pioglitazone + simvastatin
46 Trial of Laflavon in Patients With Metabolic Syndrome to Evaluate Its Effectiveness in Lowering Triglycerides and Raising High-Density Lipoprotein (HDL) Unknown status NCT01286909 Phase 3
47 Randomized Controlled Trial Comparing the Metabolic Efficiency of Allogeneic Pancreatic Islet Transplantation to Intensive Insulin Therapy for the Treatment of Type 1 Diabetes Unknown status NCT01148680 Phase 3
48 Treatment of Wolfram Syndrome Type 2 With the Chelator Deferiprone, and Incretin Based Therapy Unknown status NCT02882477 Phase 2, Phase 3 Deferiprone;Acetylcysteine;Sitagliptin and Metformin
49 Flexible, Intensive vs. Conventional Insulin Therapy in Insulin-Naive Adults With Type 2 Diabetes - a Non-Blinded, Randomized Controlled Cross-Over Clinical Trial of Metabolic Control and Patient Preference Unknown status NCT00440284 Phase 3 conventional vs. flexible, intensive insulin therapy
50 Double-blind, Randomized, Placebo-controlled, Single Site Study to Evaluate the Effects of Evolocumab (AMG 145) Treatment, Alone and in Combination With Atorvastatin, on Lipoprotein Kinetics Completed NCT02189837 Phase 3 Atorvastatin;Placebo to Evolocumab;Placebo to Atorvastatin

Search NIH Clinical Center for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

Inferred drug relations via UMLS 72 / NDF-RT 51 :


Magnesium Hydroxide
MILK OF MAGNESIA

Cochrane evidence based reviews: metabolic diseases

Genetic Tests for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

Genetic tests related to 3-Hydroxyacyl-Coa Dehydrogenase Deficiency:

# Genetic test Affiliating Genes
1 Deficiency of 3-Hydroxyacyl-Coa Dehydrogenase 29 HADH

Anatomical Context for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

MalaCards organs/tissues related to 3-Hydroxyacyl-Coa Dehydrogenase Deficiency:

41
Bone, Liver, Heart, Kidney, Testes, Endothelial, T Cells

Publications for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

Articles related to 3-Hydroxyacyl-Coa Dehydrogenase Deficiency:

(show top 50) (show all 128)
# Title Authors PMID Year
1
Short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency in muscle: a new cause for recurrent myoglobinuria and encephalopathy. 38 8
1835339 1991
2
3-Hydroxyacyl-CoA dehydrogenase and short chain 3-hydroxyacyl-CoA dehydrogenase in human health and disease. 8
16176262 2005
3
Short-chain hydroxyacyl-coenzyme A dehydrogenase deficiency presenting as unexpected infant death: A family study. 8
10931422 2000
4
Fatal hepatic short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency: clinical, biochemical, and pathological studies on three subjects with this recently identified disorder of mitochondrial beta-oxidation. 8
10347277 1999
5
Mitochondrial short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency: a new defect of fatty acid oxidation. 8
8825408 1996
6
Collapsing glomerulopathy in a child with LCHAD deficiency: a rare association. 38
30747351 2019
7
Epidemiology of rare diseases detected by newborn screening in the Czech Republic. 38
31241292 2019
8
Serial fatty acid profiles in a preterm infant with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. 38
31025818 2019
9
Erratum to "Peripheral neuropathy in patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency - A follow-up EMG study of 12 patients" [Eur J Paediatr Neuro 20 (2016) 38-44]. 38
30642532 2019
10
Neonatal screening in the Czech Republic: increased prevalence of selected diseases in low birthweight neonates. 38
30136145 2018
11
The safety of Lipistart, a medium-chain triglyceride based formula, in the dietary treatment of long-chain fatty acid disorders: a phase I study. 38
29425111 2018
12
[Acute liver failure related to inherited metabolic diseases in young children]. 38
28411097 2018
13
Retinal Dystrophy in Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency. 38
31047310 2018
14
Follow-up and multimodal imaging in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. 38
30364125 2018
15
Clinical and molecular investigation of 14 Japanese patients with complete TFP deficiency: a comparison with Caucasian cases. 38
28515471 2017
16
Energy exchangers with LCT as a precision method for diet control in LCHADD. 38
28791828 2017
17
High prevalence of carriers of variant c.1528G>C of HADHA gene causing long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) in the population of adult Kashubians from North Poland. 38
29095929 2017
18
Management of an LCHADD Patient During Pregnancy and High Intensity Exercise. 38
27334895 2017
19
Early dietary therapy for long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency can maintain vision despite subnormal retinal function. 38
27639177 2016
20
Most patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency develop pathological or subnormal retinal function. 38
27461099 2016
21
Characterization of Chorioretinopathy Associated with Mitochondrial Trifunctional Protein Disorders: Long-Term Follow-up of 21 Cases. 38
27491397 2016
22
Earlier diagnosis and strict diets improve the survival rate and clinical course of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. 38
26676313 2016
23
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: A case report. 38
26896063 2016
24
Ultra-Wide-Field Autofluorescence in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency Chorioretinopathy. 38
27078015 2016
25
Peripheral neuropathy in patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency - A follow-up EMG study of 12 patients. 38
26653362 2016
26
Round Table Discussion. 38
27931031 2016
27
Neuropsychological Development in Patients with Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) Deficiency. 38
26545880 2016
28
Heptadecanoylcarnitine (C17) a novel candidate biomarker for newborn screening of propionic and methylmalonic acidemias. 38
26368264 2015
29
A Deep Intronic HADH Splicing Mutation (c.636+471G>T) in a Congenital Hyperinsulinemic Hypoglycemia Case: Long Term Clinical Course. 38
26316438 2015
30
Patient-Specific Induced Pluripotent Stem Cell-Derived RPE Cells: Understanding the Pathogenesis of Retinopathy in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency. 38
26024122 2015
31
Increased and early lipolysis in children with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency during fast. 38
25141826 2015
32
Transient central diabetes insipidus induced by ketamine infusion. 38
25225198 2014
33
Systematic review and meta-analysis to estimate the birth prevalence of five inherited metabolic diseases. 38
25022222 2014
34
Growth in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency. 38
23430524 2013
35
[Long chain 3-hydroxyacyl-coA dehydrogenase deficiency, association with HELLP and magnetic resonance spectroscopy findings]. 38
22859334 2012
36
Diagnosis of a patient with a kinetic variant of medium and short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency by newborn screening. 38
22579592 2012
37
3-hydroxyacyl-coenzyme a dehydrogenase deficiency: identification of a new mutation causing hyperinsulinemic hypoketotic hypoglycemia, altered organic acids and acylcarnitines concentrations. 38
23430856 2012
38
Prevalence of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency in Estonia. 38
23430857 2012
39
Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: the clinical relevance of an early diagnosis and report of four new cases. 38
21347589 2011
40
Genome-wide homozygosity analysis reveals HADH mutations as a common cause of diazoxide-responsive hyperinsulinemic-hypoglycemia in consanguineous pedigrees. 38
21252247 2011
41
Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening. 38
21103935 2011
42
A comprehensive HADHA c.1528G>C frequency study reveals high prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Poland. 38
20814823 2010
43
Outcome in six patients with mitochondrial trifunctional protein disorders identified by newborn screening. 38
20659813 2010
44
Fatty acid oxidation disorders: outcome and long-term prognosis. 38
20049534 2010
45
Mechanism of hyperinsulinism in short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency involves activation of glutamate dehydrogenase. 38
20670938 2010
46
Paternal isodisomy of chromosome 2 as a cause of long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency. 38
20583174 2010
47
Two novel HADHB gene mutations in a Korean patient with mitochondrial trifunctional protein deficiency. 38
19880769 2009
48
[Long-chain 3-hydroxyacyl CoA dehydrogenase deficiency and choroidal neovascularization]. 38
19107076 2008
49
Ophthalmologic abnormalities in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: presentation of a long-term survivor. 38
18465739 2008
50
Ocular characteristics in 10 children with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a cross-sectional study with long-term follow-up. 38
18162058 2008

Variations for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

ClinVar genetic disease variations for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency:

6 (show all 33)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 HADH NM_005327.5(HADH): c.118G> A (p.Ala40Thr) single nucleotide variant Pathogenic rs137853101 4:108911206-108911206 4:107990050-107990050
2 HADH NM_005327.5(HADH): c.171C> A (p.Asp57Glu) single nucleotide variant Pathogenic rs137853102 4:108930953-108930953 4:108009797-108009797
3 HADH NM_005327.5(HADH): c.456G> T (p.Gln152His) single nucleotide variant Conflicting interpretations of pathogenicity rs1051519 4:108940732-108940732 4:108019576-108019576
4 HADH NM_005327.5(HADH): c.676T> C (p.Tyr226His) single nucleotide variant Conflicting interpretations of pathogenicity rs146036912 4:108948883-108948883 4:108027727-108027727
5 HADH NM_005327.5(HADH): c.291G> T (p.Leu97=) single nucleotide variant Conflicting interpretations of pathogenicity rs552317372 4:108935616-108935616 4:108014460-108014460
6 HADH NM_005327.5(HADH): c.*600C> T single nucleotide variant Uncertain significance rs544321475 4:108956113-108956113 4:108034957-108034957
7 HADH NM_005327.5(HADH): c.662G> A (p.Arg221His) single nucleotide variant Uncertain significance rs76476980 4:108948869-108948869 4:108027713-108027713
8 HADH NM_005327.5(HADH): c.643C> A (p.Pro215Thr) single nucleotide variant Uncertain significance rs140413151 4:108948850-108948850 4:108027694-108027694
9 HADH NM_005327.5(HADH): c.908G> T (p.Gly303Val) single nucleotide variant Uncertain significance 4:108955476-108955476 4:108034320-108034320
10 HADH NM_005327.5(HADH): c.349G> C (p.Val117Leu) single nucleotide variant Uncertain significance 4:108935674-108935674 4:108014518-108014518
11 HADH NM_005327.5(HADH): c.266G> A (p.Gly89Asp) single nucleotide variant Uncertain significance 4:108935591-108935591 4:108014435-108014435
12 HADH NM_005327.5(HADH): c.100G> C (p.Gly34Arg) single nucleotide variant Uncertain significance 4:108911188-108911188 4:107990032-107990032
13 HADH NM_001184705.2(HADH): c.-51del deletion Uncertain significance rs574132278 4:108911038-108911038 4:107989882-107989882
14 HADH NM_005327.5(HADH): c.21G> A (p.Gln7=) single nucleotide variant Uncertain significance rs886058980 4:108911109-108911109 4:107989953-107989953
15 HADH NM_005327.5(HADH): c.240G> A (p.Lys80=) single nucleotide variant Uncertain significance rs748623569 4:108931022-108931022 4:108009866-108009866
16 HADH NM_005327.5(HADH): c.*305T> A single nucleotide variant Uncertain significance rs3822294 4:108955818-108955818 4:108034662-108034662
17 HADH NM_005327.5(HADH): c.*661dup duplication Uncertain significance rs886058981 4:108956174-108956174 4:108035018-108035018
18 HADH NM_005327.5(HADH): c.*59G> A single nucleotide variant Uncertain significance rs529762487 4:108955572-108955572 4:108034416-108034416
19 HADH NM_005327.5(HADH): c.889G> A (p.Val297Ile) single nucleotide variant Uncertain significance rs376876153 4:108955457-108955457 4:108034301-108034301
20 HADH NM_005327.5(HADH): c.72G> A (p.Lys24=) single nucleotide variant Uncertain significance rs781319494 4:108911160-108911160 4:107990004-107990004
21 HADH NM_001184705.2(HADH): c.-195A> G single nucleotide variant Uncertain significance rs886058979 4:108910894-108910894 4:107989738-107989738
22 HADH NM_001184705.2(HADH): c.-115del deletion Uncertain significance rs537335460 4:108910974-108910974 4:107989818-107989818
23 HADH NM_001184705.2(HADH): c.-195A> C single nucleotide variant Uncertain significance rs886058979 4:108910894-108910894 4:107989738-107989738
24 HADH NM_005327.5(HADH): c.-36C> T single nucleotide variant Uncertain significance rs746854470 4:108911053-108911053 4:107989897-107989897
25 HADH NM_005327.5(HADH): c.*109T> A single nucleotide variant Likely benign rs221347 4:108955622-108955622 4:108034466-108034466
26 HADH NM_001184705.2(HADH): c.-102G> A single nucleotide variant Likely benign rs182097151 4:108910987-108910987 4:107989831-107989831
27 HADH NM_001184705.2(HADH): c.-65G> A single nucleotide variant Likely benign rs28703310 4:108911024-108911024 4:107989868-107989868
28 HADH NM_001184705.2(HADH): c.-193G> A single nucleotide variant Likely benign rs10017687 4:108910896-108910896 4:107989740-107989740
29 HADH NM_001184705.2(HADH): c.-71C> T single nucleotide variant Likely benign rs760202 4:108911018-108911018 4:107989862-107989862
30 HADH NM_001184705.2(HADH): c.*818A> G single nucleotide variant Likely benign rs17511319 4:108956331-108956331 4:108035175-108035175
31 HADH NM_005327.5(HADH): c.636+13G> A single nucleotide variant Benign/Likely benign rs17511214 4:108944732-108944732 4:108023576-108023576
32 HADH NM_005327.5(HADH): c.257= (p.Leu86=) single nucleotide variant Benign rs4956145 4:108931039-108931039 4:108009883-108009883
33 HADH NM_005327.5(HADH): c.-38T> C single nucleotide variant Benign rs17550794 4:108911051-108911051 4:107989895-107989895

UniProtKB/Swiss-Prot genetic disease variations for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency:

74
# Symbol AA change Variation ID SNP ID
1 HADH p.Ala40Thr VAR_024079 rs137853101
2 HADH p.Asp57Glu VAR_024080 rs137853102

Expression for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

Search GEO for disease gene expression data for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency.

Pathways for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

Pathways related to 3-Hydroxyacyl-Coa Dehydrogenase Deficiency according to KEGG:

37
# Name Kegg Source Accession
1 Fatty acid elongation hsa00062
2 Fatty acid degradation hsa00071
3 Valine, leucine and isoleucine degradation hsa00280
4 Lysine degradation hsa00310
5 Tryptophan metabolism hsa00380
6 Butanoate metabolism hsa00650

Pathways related to 3-Hydroxyacyl-Coa Dehydrogenase Deficiency according to GeneCards Suite gene sharing:

(show all 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.81 MTTP HSD17B10 HADHB HADHA HADH GLUD1
2
Show member pathways
12.65 HADHB HADHA HADH ACADVL ACADM
3
Show member pathways
12.08 HADHA GLUD1 GCK ACADM
4 11.91 HADHB HADHA GCK ACADM
5
Show member pathways
11.73 HSD17B10 HADHB HADHA HADH ACADM
6
Show member pathways
11.63 HSD17B10 HADHA HADH
7 11.63 HADH GLUD1 ACADM
8
Show member pathways
11.37 HADHB HADHA HADH ACADVL ACADM
9
Show member pathways
11.33 HSD17B10 HADHB HADH
10 11.27 HADH GCK ACADVL ACADM
11
Show member pathways
11.14 HADHA HADH
12
Show member pathways
11.1 HADHA ACADM
13
Show member pathways
11.08 HADHB HADHA HADH ACADVL ACADM
14 11.07 HADHA ACADM
15
Show member pathways
10.85 HSD17B10 HADHB HADHA
16
Show member pathways
9.92 HADHB HADHA HADH ACADM

GO Terms for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

Cellular components related to 3-Hydroxyacyl-Coa Dehydrogenase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 9.35 HSD17B10 HADH GLUD1 ACADVL ACADM
2 mitochondrial nucleoid GO:0042645 9.33 HADHB HADHA ACADVL
3 mitochondrion GO:0005739 9.23 HSD17B10 HADHB HADHA HADH GLUD1 GCK

Biological processes related to 3-Hydroxyacyl-Coa Dehydrogenase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.73 HSD17B10 HADHA HADH GLUD1 ACADVL ACADM
2 fatty acid metabolic process GO:0006631 9.55 HADHB HADHA HADH ACADVL ACADM
3 lipid metabolic process GO:0006629 9.5 MTTP HSD17B10 HADHB HADHA HADH ACADVL
4 positive regulation of insulin secretion GO:0032024 9.4 GLUD1 GCK
5 response to cold GO:0009409 9.37 ACADVL ACADM
6 fatty acid beta-oxidation using acyl-CoA dehydrogenase GO:0033539 9.32 ACADVL ACADM
7 fatty acid beta-oxidation GO:0006635 9.02 HADHB HADHA HADH ACADVL ACADM

Molecular functions related to 3-Hydroxyacyl-Coa Dehydrogenase Deficiency according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.49 ACADVL ACADM
2 fatty-acyl-CoA binding GO:0000062 9.48 HADHA ACADVL
3 NAD+ binding GO:0070403 9.46 HADH GLUD1
4 acyl-CoA dehydrogenase activity GO:0003995 9.43 ACADVL ACADM
5 oxidoreductase activity GO:0016491 9.43 HSD17B10 HADHA HADH GLUD1 ACADVL ACADM
6 enoyl-CoA hydratase activity GO:0004300 9.4 HADHB HADHA
7 acetyl-CoA C-acyltransferase activity GO:0003988 9.37 HADHB HADHA
8 long-chain-enoyl-CoA hydratase activity GO:0016508 9.26 HADHB HADHA
9 long-chain-3-hydroxyacyl-CoA dehydrogenase activity GO:0016509 9.16 HADHB HADHA
10 acetyl-CoA C-acetyltransferase activity GO:0003985 9.02 HADHA
11 3-hydroxyacyl-CoA dehydrogenase activity GO:0003857 8.92 HSD17B10 HADHB HADHA HADH

Sources for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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