LCHAD DEFICIENCY
MCID: LNG073
MIFTS: 62

Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency (LCHAD DEFICIENCY)

Categories: Endocrine diseases, Eye diseases, Genetic diseases, Liver diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Reproductive diseases
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Aliases & Classifications for Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

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

Name: Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 57 42 38
Lchad Deficiency 57 19 42 58 75 73
Long-Chain 3-Hydroxyacyl-Coenzyme a Dehydrogenase Deficiency 19 42 58 75
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 58 28 5
Aflp 19 58 73
Long-Chain 3-Hydroxy Acyl Coa Dehydrogenase Deficiency 19 42
Long-Chain 3-Oh Acyl-Coa Dehydrogenase Deficiency 19 42
Trifunctional Protein Deficiency, Type 1 42 71
Fatty Liver, Acute, of Pregnancy 57 12
Acute Fatty Liver of Pregnancy 19 58
Trifunctional Protein Deficiency with Myopathy and Neuropathy 71
3-Hydroxyacyl-Coa Dehydrogenase, Long Chain, Deficiency 42
3-Hydroxyacyl-Coa Dehydrogenase Long Chain Deficiency 19
Long-Chain 3-Hydroxyl-Coa Dehydrogenase Deficiency 73
Maternal Acute Fatty Liver of Pregnancy 73
Trifunctional Protein Deficiency Type 1 5
Hellp Syndrome, Maternal, of Pregnancy 57
Acute Fatty Liver, Gestational 19
Lchadd 58

Characteristics:


Inheritance:

Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency: Autosomal recessive 57
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency: Autosomal recessive 58
Acute Fatty Liver of Pregnancy: Multigenic/multifactorial 58

Prevelance:

Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency: 1-9/1000000 (Australia, United States, Germany, Poland, Israel, Specific population) 1-9/100000 (Sweden, Estonia, Europe, Czech Republic) 58

Age Of Onset:

Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency: Infancy,Neonatal 58
Acute Fatty Liver of Pregnancy: Adult 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
sudden, unexplained death (in some patients)
age at presentation - mean 5.8 months (range 1 day-26 months)
episodic illness precipitated by fasting or illness


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare hepatic diseases
Rare gynaecological and obstetric diseases
Inborn errors of metabolism
Rare endocrine diseases


Summaries for Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

MedlinePlus Genetics: 42 Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is a rare condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting).Signs and symptoms of LCHAD deficiency typically appear during infancy or early childhood and can include feeding difficulties, lack of energy (lethargy), low blood sugar (hypoglycemia), weak muscle tone (hypotonia), liver problems, and abnormalities in the light-sensitive tissue at the back of the eye (retina). Later in childhood, people with this condition may experience muscle pain, breakdown of muscle tissue, and a loss of sensation in their arms and legs (peripheral neuropathy). Individuals with LCHAD deficiency are also at risk for serious heart problems, breathing difficulties, coma, and sudden death.Problems related to LCHAD deficiency can be triggered when the body is under stress, for example during periods of fasting, illnesses such as viral infections, or weather extremes. 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: Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency, also known as lchad deficiency, is related to reye syndrome and hypoglycemia, and has symptoms including myalgia and weakness. An important gene associated with Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency is HADHA (Hydroxyacyl-CoA Dehydrogenase Trifunctional Multienzyme Complex Subunit Alpha), and among its related pathways/superpathways are Metabolism and Fatty acid metabolism. The drugs Glycerin and (3-Carboxy-2-(R)-Hydroxy-Propyl)-Trimethyl-Ammonium have been mentioned in the context of this disorder. Affiliated tissues include liver, eye and retina, and related phenotypes are photophobia and hypoketotic hypoglycemia

Orphanet 58 Acute fatty liver of pregnancy: A rare, severe complication occurring in the third trimester of pregnancy or in early postpartum period bearing a risk for perinatal and maternal mortality and characterized by jaundice, rise of hepatic injuries and evolving to acute liver failure and encephalopathy.

Long chain 3-hydroxyacyl-coa dehydrogenase deficiency: A mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood of hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and, frequently, cardiac involvement with arrhythmias and/or cardiomyopathy.

UniProtKB/Swiss-Prot 73 Long-chain 3-hydroxyl-coa dehydrogenase deficiency: The clinical features are very similar to TFP deficiency. Biochemically, LCHAD deficiency is characterized by reduced long-chain 3-hydroxyl-CoA dehydrogenase activity, while the other enzyme activities of the TFP complex are normal or only slightly reduced.

Maternal acute fatty liver of pregnancy: Severe maternal illness occurring during pregnancies with affected fetuses. This disease is associated with LCHAD deficiency and characterized by sudden unexplained infant death or hypoglycemia and abnormal liver enzymes (Reye-like syndrome).

GARD: 19 Acute fatty liver of pregnancy (AFLP) is a rare and serious complication of pregnancy. It is characterized by a build-up of fat in the liver, which can lead to liver damage. The cause of AFLP is not well understood, but genetics may play a role. Symptoms generally begin in the third trimester and may include persistent nausea and vomiting, pain in the stomach or upper-right abdomen, malaise, jaundice and headache.

OMIM®: 57 Isolated deficiency of long-chain 3-hydroxyl-CoA dehydrogenase (LCHAD) is an autosomal recessive disorder characterized by early-onset cardiomyopathy, hypoglycemia, neuropathy, and pigmentary retinopathy, and sudden death (IJlst et al., 1996). (609016) (Updated 08-Dec-2022)

Wikipedia: 75 Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency is a rare autosomal recessive fatty acid... more...

Related Diseases for Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

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

(show top 50) (show all 294)
# Related Disease Score Top Affiliating Genes
1 reye syndrome 30.4 HMGCL HADHA
2 hypoglycemia 30.3 HMGCL HADHB HADHA HADH
3 acyl-coa dehydrogenase, medium-chain, deficiency of 30.3 HMGCL HADHA HADH
4 mitochondrial trifunctional protein deficiency 30.2 HADHB HADHA HADH GAREM2
5 abetalipoproteinemia 30.1 HADHB HADHA
6 acyl-coa dehydrogenase, short-chain, deficiency of 30.0 HADHA HADH
7 carnitine palmitoyltransferase ii deficiency, infantile 29.9 HADHA HADH
8 myopathy 29.7 HADHB HADHA HADH
9 glutaric acidemia i 29.7 HADHA HADH
10 homocystinuria 29.5 HMGCL HADHA
11 acyl-coa dehydrogenase, very long-chain, deficiency of 29.5 HMGCL HADHB HADHA HADH
12 maple syrup urine disease 29.3 HMGCL HADHA HADH
13 3-hydroxyacyl-coa dehydrogenase deficiency 11.3
14 long-chain hydroxyacyl-coa dehydrogenase deficiency / trifunctional protein deficiency 10.8
15 disseminated intravascular coagulation 10.8
16 peripheral nervous system disease 10.8
17 neuropathy 10.8
18 acute liver failure 10.7
19 hypotonia 10.7
20 non-alcoholic fatty liver disease 10.7
21 abdominal obesity-metabolic syndrome 1 10.6
22 retinitis pigmentosa 10.6
23 late-onset retinal degeneration 10.6
24 pre-eclampsia 10.6
25 myopia 10.6
26 liver disease 10.6
27 acyl-coa dehydrogenase deficiency 10.6
28 acute kidney failure 10.5
29 pancreatitis 10.5
30 atrial standstill 1 10.5
31 ocular motor apraxia 10.5
32 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 10.5
33 hellp syndrome 10.5
34 lactic acidosis 10.5
35 placenta disease 10.5
36 cataract 10.5
37 medium-chain acyl-coenzyme a dehydrogenase deficiency 10.5
38 central diabetes insipidus 10.5
39 intrahepatic cholestasis 10.5
40 viral hepatitis 10.5
41 bilirubin metabolic disorder 10.5
42 acute pancreatitis 10.5
43 diabetes insipidus 10.5
44 intrahepatic cholestasis of pregnancy 10.4
45 polyploidy 10.4
46 severe pre-eclampsia 10.4
47 cardiomyopathy, familial hypertrophic, 1 10.4
48 hypertrophic cardiomyopathy 10.4
49 placental insufficiency 10.4
50 axonal neuropathy 10.4

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



Diseases related to Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

Symptoms & Phenotypes for Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

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

58 30 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 photophobia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000613
2 hypoketotic hypoglycemia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001985
3 global developmental delay 58 30 Frequent (33%) Frequent (79-30%)
HP:0001263
4 hepatomegaly 58 30 Frequent (33%) Frequent (79-30%)
HP:0002240
5 abnormal electroretinogram 58 30 Frequent (33%) Frequent (79-30%)
HP:0000512
6 hypertrophic cardiomyopathy 58 30 Frequent (33%) Frequent (79-30%)
HP:0001639
7 peripheral neuropathy 58 30 Frequent (33%) Frequent (79-30%)
HP:0009830
8 visual loss 58 30 Frequent (33%) Frequent (79-30%)
HP:0000572
9 exotropia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000577
10 intellectual disability 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001249
11 seizure 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001250
12 failure to thrive 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001508
13 abnormality of retinal pigmentation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007703
14 retinopathy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000488
15 myopia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000545
16 cholestatic liver disease 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002611
17 nyctalopia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000662
18 feeding difficulties 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0011968
19 generalized hypotonia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001290
20 posterior staphyloma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0030856
21 chorioretinal atrophy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000533
22 hypotonia 58 30 Frequent (79-30%)
HP:0001252
23 hypoglycemia 58 30 Very frequent (99-80%)
HP:0001943
24 chorioretinal abnormality 58 Occasional (29-5%)
25 abnormality of metabolism/homeostasis 58 Frequent (79-30%)
26 cardiomyopathy 30 HP:0001638
27 pigmentary retinopathy 30 HP:0000580
28 sudden death 30 HP:0001699
29 decreased 3-hydroxyacyl-coa dehydrogenase level 30 HP:0100950

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Growth Other:
failure to thrive

Abdomen Liver:
hepatomegaly
cholestatic liver disease
hepatic failure
fatty liver

Abdomen Gastrointestinal:
vomiting
feeding problems

Cardiovascular Heart:
cardiomyopathy
arrhythmias

Metabolic Features:
hypoketotic hypoglycemia
recurrent metabolic crises

Laboratory Abnormalities:
increased liver enzymes
elevated creatine kinase
elevated ammonia
deficiency of long-chain 3-hydroxyacyl-coa dehydrogenase
elevated urinary 3-hydroxy-dicarboxylic acids
more
Neurologic Central Nervous System:
hypotonia
microcephaly
coma
seizures

Head And Neck Eyes:
visual impairment
pigmentary retinopathy

Neurologic Peripheral Nervous System:
peripheral neuropathy

Prenatal Manifestations Maternal:
hyperemesis gravidarum
hellp (hemolysis, elevated liver enzymes, low platelets) syndrome
aflp (acute fatty liver of pregnancy)

Muscle Soft Tissue:
muscle cramps

Clinical features from OMIM®:

609016 (Updated 08-Dec-2022)

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


myalgia; weakness

Drugs & Therapeutics for Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

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

(show all 23)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Glycerin Approved, Investigational Phase 2 56-81-5 753
2
(3-Carboxy-2-(R)-Hydroxy-Propyl)-Trimethyl-Ammonium Experimental Phase 2 461-06-3
3
Heparin, bovine Approved, Investigational, Withdrawn 9005-49-6 22833565 9812414 772
4
Nicotinamide Approved, Investigational Early Phase 1 98-92-0 936
5
Niacin Approved, Investigational, Nutraceutical Early Phase 1 59-67-6 938
6
Stevioside Investigational Early Phase 1 57817-89-7 442089
7 Pharmaceutical Solutions
8 Parenteral Nutrition Solutions
9 Fibrinolytic Agents
10 Insulin, Globin Zinc
11
Insulin
12 Fat Emulsions, Intravenous
13 Soybean oil, phospholipid emulsion
14 Soy Bean
15 Anticoagulants
16 Calcium heparin
17 Protective Agents
18 Vitamin B3 Early Phase 1
19 Nicotinic Acids Early Phase 1
20 Calcium, Dietary Early Phase 1
21 Stevia Early Phase 1
22 Liver Extracts
23
Calcium Nutraceutical Early Phase 1 7440-70-2 271

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 An Open-label Phase 2 Study to Assess Safety and Clinical Effects of UX007 in Subjects With Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD) Completed NCT01886378 Phase 2 UX007
2 Phase 2 Study of Triheptanoin for Treatment of Long-Chain Fatty Acid Oxidation Disorders Completed NCT01379625 Phase 2 Triheptanoin
3 An Open-label Long-Term Safety and Efficacy Extension Study in Subjects With Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD) Previously Enrolled in UX007 or Triheptanoin Studies Completed NCT02214160 Phase 2 UX007
4 Fatty Acid Oxidation and Body Weight Regulation in Long-chain Fatty Acid Oxidation Disorders. Completed NCT01494051 Phase 1, Phase 2
5 Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Unknown status NCT02635269
6 Role of Fatty Acid Oxidation Defects in Insulin Sensitivity Completed NCT02517307 Intralipid/Heparin;Glycerol/Saline;Hyperinsulinemic euglycemic clamp
7 Safety and Tolerability of Oral Ketones and Exercise Among Patients With Long-chain Fatty Acid Oxidation Disorders Recruiting NCT05411835 Early Phase 1
8 EASL: European Registry of Liver Disease in Pregnancy Recruiting NCT03834285

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

Genetic Tests for Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

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

# Genetic test Affiliating Genes
1 Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 28 HADHA

Anatomical Context for Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

Organs/tissues related to Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency:

MalaCards : Liver, Eye, Retina, Heart, Kidney, Tongue, Breast

Publications for Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

Articles related to Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency:

(show top 50) (show all 5315)
# Title Authors PMID Year
1
Paternal isodisomy of chromosome 2 as a cause of long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency. 62 57 5
20583174 2010
2
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: clinical presentation and follow-up of 50 patients. 62 57 5
11773547 2002
3
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: variable expressivity of maternal illness during pregnancy and unusual presentation with infantile cholestasis and hypocalcaemia. 62 57 5
10518281 1999
4
A fetal fatty-acid oxidation disorder as a cause of liver disease in pregnant women. 62 57 5
10352164 1999
5
Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency with the G1528C mutation: clinical presentation of thirteen patients. 62 57 5
9003853 1997
6
Common missense mutation G1528C in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Characterization and expression of the mutant protein, mutation analysis on genomic DNA and chromosomal localization of the mitochondrial trifunctional protein alpha subunit gene. 62 57 5
8770876 1996
7
The molecular basis of pediatric long chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with maternal acute fatty liver of pregnancy. 62 57 5
7846063 1995
8
Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of the major disease-causing mutation in the alpha-subunit of the mitochondrial trifunctional protein. 62 57 5
7811722 1994
9
Effects of fasting, feeding and exercise on plasma acylcarnitines among subjects with CPT2D, VLCADD and LCHADD/TFPD. 62 57
32928639 2020
10
Non-invasive test using palmitate in patients with suspected fatty acid oxidation defects: disease-specific acylcarnitine patterns can help to establish the diagnosis. 62 5
29268767 2017
11
Clinical and molecular investigation of 14 Japanese patients with complete TFP deficiency: a comparison with Caucasian cases. 62 5
28515471 2017
12
Characterization of Chorioretinopathy Associated with Mitochondrial Trifunctional Protein Disorders: Long-Term Follow-up of 21 Cases. 62 5
27491397 2016
13
Peripheral neuropathy in patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency - A follow-up EMG study of 12 patients. 62 5
26653362 2016
14
Patient-Specific Induced Pluripotent Stem Cell-Derived RPE Cells: Understanding the Pathogenesis of Retinopathy in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency. 62 5
26024122 2015
15
Clinical outcome, biochemical and therapeutic follow-up in 14 Austrian patients with Long-Chain 3-Hydroxy Acyl CoA Dehydrogenase Deficiency (LCHADD). 62 5
25888220 2015
16
Observations regarding retinopathy in mitochondrial trifunctional protein deficiencies. 62 5
22459206 2012
17
Prevalence of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency in Estonia. 62 5
23430857 2012
18
Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening. 62 5
21103935 2011
19
Outcome in six patients with mitochondrial trifunctional protein disorders identified by newborn screening. 62 5
20659813 2010
20
Acute fatty liver of pregnancy and neonatal long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (LCHAD) deficiency. 62 5
18408953 2009
21
Two novel HADHB gene mutations in a Korean patient with mitochondrial trifunctional protein deficiency. 62 5
19880769 2009
22
Identification of novel mutations of the HADHA and HADHB genes in patients with mitochondrial trifunctional protein deficiency. 62 5
17143551 2007
23
Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency. 62 5
15902556 2005
24
Optimal dietary therapy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. 62 5
12809642 2003
25
Accumulation of 3-hydroxy-fatty acids in the culture medium of long-chain L-3-hydroxyacyl CoA dehydrogenase (LCHAD) and mitochondrial trifunctional protein-deficient skin fibroblasts: implications for medium chain triglyceride dietary treatment of LCHAD deficiency. 62 57
12621125 2003
26
Mitochondrial fatty acid beta-oxidation in the retinal pigment epithelium. 62 57
12357056 2002
27
Fetal genotypes and pregnancy outcomes in 35 families with mitochondrial trifunctional protein mutations. 62 5
12237653 2002
28
Placental floor infarction complicating the pregnancy of a fetus with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency. 62 5
11243734 2001
29
Molecular prenatal diagnosis in families with fetal mitochondrial trifunctional protein mutations. 62 57
11241049 2001
30
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: neonatal manifestation at the first day of life presenting with tachypnoea. 62 57
10518285 1999
31
Neonatal diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and implications for newborn screening by tandem mass spectrometry. 62 57
10518286 1999
32
Dietary management of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD). A case report and survey. 62 5
10234607 1999
33
Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of two new mutations. 62 5
9266371 1997
34
Retinal dystrophy in long chain 3-hydroxy-acyl-coA dehydrogenase deficiency. 62 57
9215057 1997
35
Maternal acute fatty liver of pregnancy associated with fetal trifunctional protein deficiency: molecular characterization of a novel maternal mutant allele. 62 5
8865274 1996
36
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a new method to identify the G1528C mutation in genomic DNA showing its high frequency (approximately 90%) and identification of a new mutation (T2198C). 62 5
8739956 1996
37
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a severe fatty acid oxidation disorder. 62 57
7813533 1994
38
Mitochondrial trifunctional protein deficiency. Catalytic heterogeneity of the mutant enzyme in two patients. 62 5
8163672 1994
39
Acute fatty liver of pregnancy and long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency. 62 57
8294091 1994
40
Pregnancy and fetal long-chain 3-hydroxyacyl coenzyme A dehydrogenase deficiency. 62 57
8094173 1993
41
Peripheral sensory-motor polyneuropathy, pigmentary retinopathy, and fatal cardiomyopathy in long-chain 3-hydroxy-acyl-CoA dehydrogenase deficiency. 62 57
1537353 1992
42
Progressive neuropathy and recurrent myoglobinuria in a child with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency. 62 5
2019931 1991
43
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. 62 57
1830138 1991
44
3-Hydroxydicarboxylic aciduria due to long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency associated with sudden neonatal death: protective effect of medium-chain triglyceride treatment. 62 57
2044590 1991
45
Clinical outcomes in a series of 18 patients with long chain fatty acids oxidation disorders treated with triheptanoin for a median duration of 22 months. 57
33610471 2021
46
The role of exome sequencing in newborn screening for inborn errors of metabolism. 5
32778825 2020
47
Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging. 5
31980526 2020
48
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes. 5
31589614 2019
49
HADHA and HADHB gene associated phenotypes - Identification of rare variants in a patient cohort by Next Generation Sequencing. 5
30682426 2019
50
HADHB mutations cause infantile-onset axonal Charcot-Marie-Tooth disease: A report of two cases. 5
29956646 2018

Variations for Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

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

5 (show top 50) (show all 701)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GAREM2, HADHA NM_000182.5(HADHA):c.1132C>T (p.Gln378Ter) SNV Pathogenic
Pathogenic
Likely Pathogenic
8729 rs137852770 GRCh37: 2:26427019-26427019
GRCh38: 2:26204150-26204150
2 GAREM2, HADHA NM_000182.5(HADHA):c.2132dup (p.Pro712fs) DUP Pathogenic
8733 rs1574600309 GRCh37: 2:26414365-26414366
GRCh38: 2:26191496-26191497
3 HADHA NM_000182.5(HADHA):c.1025T>C (p.Leu342Pro) SNV Pathogenic
8734 rs137852772 GRCh37: 2:26432709-26432709
GRCh38: 2:26209840-26209840
4 HADHA NM_000182.5(HADHA):c.845T>A (p.Val282Asp) SNV Pathogenic
8735 rs137852773 GRCh37: 2:26437385-26437385
GRCh38: 2:26214516-26214516
5 HADHB NM_000183.3(HADHB):c.788A>G (p.Asp263Gly) SNV Pathogenic
14844 rs121913131 GRCh37: 2:26502160-26502160
GRCh38: 2:26279292-26279292
6 HADHB NM_000183.3(HADHB):c.740G>A (p.Arg247His) SNV Pathogenic
14846 rs121913133 GRCh37: 2:26502112-26502112
GRCh38: 2:26279244-26279244
7 HADHB NM_000183.3(HADHB):c.1331G>A (p.Arg444Lys) SNV Pathogenic
14847 rs121913134 GRCh37: 2:26508381-26508381
GRCh38: 2:26285513-26285513
8 HADHA NM_000182.5(HADHA):c.157C>T (p.Arg53Ter) SNV Pathogenic
Pathogenic
92594 rs147103714 GRCh37: 2:26461825-26461825
GRCh38: 2:26238957-26238957
9 HADHB NM_000183.3(HADHB):c.357dup (p.Ala120fs) DUP Pathogenic
253049 rs886037844 GRCh37: 2:26499942-26499943
GRCh38: 2:26277074-26277075
10 HADHB NM_000183.3(HADHB):c.254+1G>A SNV Pathogenic
431987 rs776172237 GRCh37: 2:26492866-26492866
GRCh38: 2:26269998-26269998
11 GAREM2, HADHA NM_000182.5(HADHA):c.1690-17_1690-2del DEL Pathogenic
848128 rs1669581856 GRCh37: 2:26416643-26416658
GRCh38: 2:26193774-26193789
12 HADHA NC_000002.11:g.(?_26414109)_(26462021_?)del DEL Pathogenic
661736 GRCh37: 2:26414109-26462021
GRCh38:
13 HADHB NM_000183.3(HADHB):c.1206C>G (p.Tyr402Ter) SNV Pathogenic
801656 rs146538551 GRCh37: 2:26507807-26507807
GRCh38: 2:26284939-26284939
14 HADHA NC_000002.12:g.(?_26236845)_(26239153_?)del DEL Pathogenic
831608 GRCh37: 2:26459713-26462021
GRCh38:
15 HADHA NC_000002.11:g.(?_26416436)_(26418111_?)del DEL Pathogenic
1070607 GRCh37: 2:26416436-26418111
GRCh38:
16 GAREM2, HADHA NM_000182.5(HADHA):c.2134_2138dup (p.Gly715fs) DUP Pathogenic
978225 rs1669501514 GRCh37: 2:26414359-26414360
GRCh38: 2:26191490-26191491
17 HADHB NM_000183.3(HADHB):c.631-1G>A SNV Pathogenic
1323049 GRCh37: 2:26502002-26502002
GRCh38: 2:26279134-26279134
18 HADHA NM_000182.5(HADHA):c.72del (p.Gly23_Tyr24insTer) DEL Pathogenic
Likely Pathogenic
552438 rs1553316176 GRCh37: 2:26462007-26462007
GRCh38: 2:26239139-26239139
19 HADHB NM_000183.3(HADHB):c.693_696dup (p.Ala233fs) DUP Pathogenic
431822 rs745646607 GRCh37: 2:26502064-26502065
GRCh38: 2:26279196-26279197
20 HADHA NM_000182.5(HADHA):c.690del (p.Lys230fs) DEL Pathogenic
1388408 GRCh37: 2:26438031-26438031
GRCh38: 2:26215162-26215162
21 HADHA NM_000182.5(HADHA):c.556C>T (p.Gln186Ter) SNV Pathogenic
1373566 GRCh37: 2:26455045-26455045
GRCh38: 2:26232177-26232177
22 GAREM2, HADHA NM_000182.5(HADHA):c.1654dup (p.Ala552fs) DUP Pathogenic
1386792 GRCh37: 2:26417473-26417474
GRCh38: 2:26194604-26194605
23 HADHB NM_000183.3(HADHB):c.989del (p.Gly330fs) DEL Pathogenic
1360920 GRCh37: 2:26505766-26505766
GRCh38: 2:26282898-26282898
24 HADHA NM_000182.5(HADHA):c.352_353del (p.Gln118fs) MICROSAT Pathogenic
1408580 GRCh37: 2:26457185-26457186
GRCh38: 2:26234317-26234318
25 HADHA NM_000182.5(HADHA):c.966_967del (p.Cys322_Glu323delinsTer) MICROSAT Pathogenic
1420102 GRCh37: 2:26435447-26435448
GRCh38: 2:26212578-26212579
26 HADHB NM_000183.3(HADHB):c.646G>T (p.Glu216Ter) SNV Pathogenic
1410430 GRCh37: 2:26502018-26502018
GRCh38: 2:26279150-26279150
27 HADHB NC_000002.11:g.(?_26492801)_(26496638_?)del DEL Pathogenic
1400432 GRCh37: 2:26492801-26496638
GRCh38:
28 HADHA NC_000002.11:g.(?_26467378)_(26467464_?)del DEL Pathogenic
1460437 GRCh37: 2:26467378-26467464
GRCh38:
29 HADHA NM_000182.5(HADHA):c.310dup (p.Ile104fs) DUP Pathogenic
1435055 GRCh37: 2:26459726-26459727
GRCh38: 2:26236858-26236859
30 GAREM2, HADHA NM_000182.5(HADHA):c.1540del (p.Thr514fs) DEL Pathogenic
1459829 GRCh37: 2:26418041-26418041
GRCh38: 2:26195172-26195172
31 GAREM2, HADHA NM_000182.5(HADHA):c.1204C>T (p.Gln402Ter) SNV Pathogenic
1455608 GRCh37: 2:26426947-26426947
GRCh38: 2:26204078-26204078
32 GAREM2, HADHA NM_000182.5(HADHA):c.1491_1495dup (p.Tyr499fs) DUP Pathogenic
1455936 GRCh37: 2:26418085-26418086
GRCh38: 2:26195216-26195217
33 HADHA NM_000182.5(HADHA):c.387_388del (p.Lys129fs) DEL Pathogenic
1452699 GRCh37: 2:26457150-26457151
GRCh38: 2:26234282-26234283
34 GAREM2, HADHA NM_000182.5(HADHA):c.1620+1del DEL Pathogenic
1452307 GRCh37: 2:26417960-26417960
GRCh38: 2:26195091-26195091
35 GAREM2, HADHA NM_000182.5(HADHA):c.2020C>T (p.Gln674Ter) SNV Pathogenic
1452112 GRCh37: 2:26414478-26414478
GRCh38: 2:26191609-26191609
36 GAREM2, HADHA NM_000182.5(HADHA):c.1554del (p.Asp520fs) DEL Pathogenic
1452124 GRCh37: 2:26418027-26418027
GRCh38: 2:26195158-26195158
37 HADHA NM_000182.5(HADHA):c.612dup (p.Arg205Ter) DUP Pathogenic
638987 rs1574623071 GRCh37: 2:26453123-26453124
GRCh38: 2:26230255-26230256
38 GAREM2, HADHA NM_000182.5(HADHA):c.1523del (p.Leu508fs) DEL Pathogenic
1069908 GRCh37: 2:26418058-26418058
GRCh38: 2:26195189-26195189
39 HADHA NM_000182.5(HADHA):c.180+1G>A SNV Pathogenic
Likely Pathogenic
Likely Pathogenic
8730 rs786205088 GRCh37: 2:26461801-26461801
GRCh38: 2:26238933-26238933
40 GAREM2, HADHA NM_000182.5(HADHA):c.1319dup (p.Ala441fs) DUP Pathogenic
1073572 GRCh37: 2:26424090-26424091
GRCh38: 2:26201221-26201222
41 GAREM2, HADHA NM_000182.5(HADHA):c.1528G>T (p.Glu510Ter) SNV Pathogenic
1075355 GRCh37: 2:26418053-26418053
GRCh38: 2:26195184-26195184
42 HADHB NM_000183.3(HADHB):c.97C>T (p.Arg33Ter) SNV Pathogenic
1075534 GRCh37: 2:26477330-26477330
GRCh38: 2:26254462-26254462
43 HADHA NM_000182.5(HADHA):c.180+3A>G SNV Pathogenic
Pathogenic
Pathogenic
8731 rs781222705 GRCh37: 2:26461799-26461799
GRCh38: 2:26238931-26238931
44 GAREM2, HADHA NM_000182.5(HADHA):c.1678C>T (p.Arg560Ter) SNV Pathogenic
Pathogenic
Pathogenic
8732 rs137852771 GRCh37: 2:26417450-26417450
GRCh38: 2:26194581-26194581
45 HADHA NM_000182.5(HADHA):c.914T>A (p.Ile305Asn) SNV Pathogenic
Pathogenic
Likely Pathogenic
8736 rs137852774 GRCh37: 2:26437316-26437316
GRCh38: 2:26214447-26214447
46 HADHA NM_000182.5(HADHA):c.871C>T (p.Arg291Ter) SNV Pathogenic
Pathogenic
Pathogenic
8737 rs137852775 GRCh37: 2:26437359-26437359
GRCh38: 2:26214490-26214490
47 GAREM2, HADHA NM_000182.5(HADHA):c.1720_1721del (p.Leu574fs) DEL Pathogenic
845656 rs1278248464 GRCh37: 2:26416610-26416611
GRCh38: 2:26193741-26193742
48 GAREM2, HADHA NM_000182.5(HADHA):c.1644del (p.Arg549fs) DEL Pathogenic
651987 rs1267615713 GRCh37: 2:26417484-26417484
GRCh38: 2:26194615-26194615
49 HADHA NM_000182.5(HADHA):c.6_24dup (p.Ile9fs) DUP Pathogenic
579792 rs1456890163 GRCh37: 2:26467440-26467441
GRCh38: 2:26244572-26244573
50 GAREM2, HADHA NM_000182.5(HADHA):c.1086-3_1092del DEL Pathogenic
Likely Pathogenic
370400 rs1057516460 GRCh37: 2:26427059-26427068
GRCh38: 2:26204190-26204199

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

73
# Symbol AA change Variation ID SNP ID
1 HADHA p.Glu510Gln VAR_002273 rs137852769
2 HADHA p.Leu342Pro VAR_021127 rs137852772

Expression for Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

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

Pathways for Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.19 HMGCL HADHB HADHA HADH
2
Show member pathways
12.14 HADHB HADHA HADH
3 11.61 HADHB HADHA
4
Show member pathways
11.39 HMGCL HADHA
5
Show member pathways
11.3 HMGCL HADH
6
Show member pathways
11.06 HADHB HADHA HADH
7
Show member pathways
10.43 HADHB HADHA
8
Show member pathways
10.4 HADHB HADHA HADH

GO Terms for Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.76 HMGCL HADHB HADHA HADH
2 mitochondrial nucleoid GO:0042645 9.26 HADHB HADHA
3 mitochondrial fatty acid beta-oxidation multienzyme complex GO:0016507 8.92 HADHB HADHA

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

# Name GO ID Score Top Affiliating Genes
1 response to insulin GO:0032868 9.56 HADHA HADH
2 lipid metabolic process GO:0006629 9.35 HMGCL HADHB HADHA HADH
3 fatty acid metabolic process GO:0006631 9.33 HADHB HADHA HADH
4 fatty acid beta-oxidation GO:0006635 9.1 HADHB HADHA HADH

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

# Name GO ID Score Top Affiliating Genes
1 NAD+ binding GO:0070403 9.62 HADHA HADH
2 enoyl-CoA hydratase activity GO:0004300 9.56 HADHB HADHA
3 acetyl-CoA C-acetyltransferase activity GO:0003985 9.46 HADHB HADHA
4 lyase activity GO:0016829 9.4 HMGCL HADHA
5 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor GO:0016616 9.37 HADHA HADH
6 acetyl-CoA C-acyltransferase activity GO:0003988 9.13 HADHB HADHA
7 3-hydroxyacyl-CoA dehydrogenase activity GO:0003857 9.1 HADHB HADHA HADH

Sources for Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

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