MCID: LCH005
MIFTS: 41

Lchad Deficiency

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Liver diseases, Reproductive diseases, Metabolic diseases, Endocrine diseases

Aliases & Classifications for Lchad Deficiency

MalaCards integrated aliases for Lchad Deficiency:

Name: Lchad Deficiency 54 50 24 25 56 71 29
Long-Chain 3-Hydroxyacyl-Coenzyme a Dehydrogenase Deficiency 50 25 56
Aflp 50 56 71
Long-Chain 3-Hydroxy Acyl Coa Dehydrogenase Deficiency 50 25
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 24 56
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 25 29
Long-Chain 3-Oh Acyl-Coa Dehydrogenase Deficiency 50 25
Trifunctional Protein Deficiency, Type 1 25 69
Fatty Liver, Acute, of Pregnancy 54 13
Acute Fatty Liver of Pregnancy 50 56
Trifunctional Protein Deficiency with Myopathy and Neuropathy 69
3-Hydroxyacyl-Coa Dehydrogenase, Long Chain, Deficiency 25
3-Hydroxyacyl-Coa Dehydrogenase Long Chain Deficiency 50
Long-Chain 3-Hydroxyl-Coa Dehydrogenase Deficiency 71
Trifunctional Protein Deficiency Type 1 50
Maternal Acute Fatty Liver of Pregnancy 71
Hellp Syndrome, Maternal, of Pregnancy 54
Acute Fatty Liver, Gestational 50
Lchadd 56

Characteristics:

Orphanet epidemiological data:

56
acute fatty liver of pregnancy
Inheritance: Multigenic/multifactorial; Age of onset: Adult;
long chain 3-hydroxyacyl-coa dehydrogenase deficiency
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Australia),1-9/1000000 (Germany),1-9/1000000 (Poland),1-9/100000 (Estonia),1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: early childhood;

HPO:

32
lchad deficiency:
Mortality/Aging sudden death


Classifications:



External Ids:

OMIM 54 609016
Orphanet 56 ORPHA243367 ORPHA5
MESH via Orphanet 43 C537957
UMLS via Orphanet 70 C1455728 C0342786 C1969443
ICD10 via Orphanet 34 O26.6 E71.3
MedGen 40 CN074230

Summaries for Lchad Deficiency

NIH Rare Diseases : 50 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. without prompt treatment, aflp can lead to coma, organ failure or death of the mother and baby. treatment involves stabilizing the mother and delivery of the baby.  last updated: 8/25/2014

MalaCards based summary : Lchad Deficiency, also known as long-chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency, is related to trifunctional protein deficiency and 3-hydroxyacyl-coa dehydrogenase deficiency, and has symptoms including hepatomegaly, pigmentary retinopathy and hypoglycemia. An important gene associated with Lchad Deficiency is HADHA (Hydroxyacyl-CoA Dehydrogenase/3-Ketoacyl-CoA Thiolase/Enoyl-CoA Hydratase (Trifunctional Protein), Alpha Subunit). The drugs Glycerol and Heparin have been mentioned in the context of this disorder. Affiliated tissues include liver, eye and testes.

Genetics Home Reference : 25 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).

OMIM : 54
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)

UniProtKB/Swiss-Prot : 71 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).

Related Diseases for Lchad Deficiency

Diseases related to Lchad Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 24)
id Related Disease Score Top Affiliating Genes
1 trifunctional protein deficiency 11.5
2 3-hydroxyacyl-coa dehydrogenase deficiency 11.0
3 3-hydroxyacyl-coenzyme a dehydrogenase deficiency 10.8
4 cardiomyopathy 10.2
5 polyneuropathy 10.2
6 retinitis 10.2
7 hepatitis 10.2
8 disseminated intravascular coagulation 10.1
9 cardiogenic shock 10.1
10 hypoparathyroidism 10.1
11 chorioretinitis 10.1
12 pancreatitis 10.1
13 hellp syndrome 10.1
14 diabetes insipidus 10.0
15 plague 9.9
16 hemophagocytic lymphohistiocytosis 9.8
17 liver disease 9.8
18 myopathy 9.8
19 bannayan-riley-ruvalcaba syndrome 9.8
20 ruvalcaba syndrome 9.8
21 chikungunya 9.7
22 cystic fibrosis 9.7
23 pancreatic cancer 9.7
24 leishmaniasis 9.7

Graphical network of the top 20 diseases related to Lchad Deficiency:



Diseases related to Lchad Deficiency

Symptoms & Phenotypes for Lchad Deficiency

Clinical features from OMIM:

609016

Human phenotypes related to Lchad Deficiency:

32 (show all 6)
id Description HPO Frequency HPO Source Accession
1 hepatomegaly 32 HP:0002240
2 pigmentary retinopathy 32 HP:0000580
3 hypoglycemia 32 HP:0001943
4 cardiomyopathy 32 HP:0001638
5 muscular hypotonia 32 HP:0001252
6 decreased activity of 3-hydroxyacyl-coa dehydrogenase 32 HP:0100950

UMLS symptoms related to Lchad Deficiency:


myalgia, weakness

Drugs & Therapeutics for Lchad Deficiency

Drugs for Lchad Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 25)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Glycerol Approved, Investigational 56-81-5 753
2
Heparin Approved, Investigational 9005-49-6 772 46507594
3 Tocopherol Approved, Nutraceutical
4
Vitamin E Approved, Nutraceutical, Vet_approved 59-02-9 14985
5 Anticoagulants
6 calcium heparin
7 Calcium, Dietary
8 Fat Emulsions, Intravenous
9 Fibrinolytic Agents
10 Hypoglycemic Agents
11 insulin
12 Insulin, Globin Zinc
13 Parenteral Nutrition Solutions
14 Pharmaceutical Solutions
15 Protective Agents
16 Soybean oil, phospholipid emulsion
17 Antioxidants
18 Micronutrients
19 Tocopherols
20 Tocotrienols
21 Trace Elements
22 Vitamins
23 Soy Bean Nutraceutical
24 pyruvate Nutraceutical
25 Tocotrienol Investigational, Nutraceutical 6829-55-6

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 High Protein Diet in Patients With Long-chain Fatty Acid Oxidation Disorders Completed NCT01494051 Phase 1, Phase 2
2 An Open-label Phase 2 Study of UX007 (Triheptanoin) in Subjects With Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD) Completed NCT01886378 Phase 2 UX007
3 Fatty Acid Oxidation Disorders & Body Weight Regulation Grant Completed NCT00654004
4 Fatty Acid Oxidation Defects and Insulin Sensitivity Recruiting NCT02517307 Intralipid/Heparin;Glycerol/Saline;Hyperinsulinemic euglycemic clamp
5 Compassionate Use of Triheptanoin (C7) for Inherited Disorders of Energy Metabolism Available NCT01461304 triheptanoin
6 Vitamin E Treatment for Long-Chain 3-Hydroxyacyl Coenzyme A (CoA) Dehydrogenase (LCHAD) Associated Neuropathy Terminated NCT00840112

Search NIH Clinical Center for Lchad Deficiency

Genetic Tests for Lchad Deficiency

Genetic tests related to Lchad Deficiency:

id Genetic test Affiliating Genes
1 Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 29
2 Lchad Deficiency 29
3 Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 24 HADHA

Anatomical Context for Lchad Deficiency

MalaCards organs/tissues related to Lchad Deficiency:

39
Liver, Eye, Testes, Skin

Publications for Lchad Deficiency

Articles related to Lchad Deficiency:

(show all 19)
id Title Authors Year
1
An Unusual Case of LCHAD Deficiency Presenting With a Clinical Picture of Hemophagocytic Lymphohistiocytosis: Secondary HLH or Coincidence? ( 27769081 )
2016
2
Uncoupling, metabolic inhibition and induction of mitochondrial permeability transition in rat liver mitochondria caused by the major long-chain hydroxyl monocarboxylic fatty acids accumulating in LCHAD deficiency. ( 25868874 )
2015
3
Neuropsychological Development in Patients with Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) Deficiency. ( 26545880 )
2015
4
Increased and early lipolysis in children with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency during fast. ( 25141826 )
2014
5
Patient specific induced pluripotent stem cells derived RPE cells: understanding the pathogenesis of retinopathy in LCHAD deficiency. ( 24894396 )
2014
6
Sports in LCHAD Deficiency: Maximal Incremental and Endurance Exercise Tests in a 13-Year-Old Patient with Long-Chain 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency (LCHADD) and Heptanoate Treatment. ( 24997711 )
2014
7
Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening. ( 21103935 )
2011
8
Perioperative management of a child with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency. ( 20470346 )
2010
9
Elevated hydroxyacylcarnitines in a carrier of LCHAD deficiency during acute liver disease of pregnancy - a common feature of the pregnancy complication? ( 20363656 )
2010
10
Paternal isodisomy of chromosome 2 as a cause of long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency. ( 20583174 )
2010
11
Acute fatty liver of pregnancy and neonatal long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (LCHAD) deficiency. ( 18408953 )
2009
12
EFFECT OF FEEDING, EXERCISE AND GENOTYPE ON PLASMA 3-HYDROXYACYLCARNITINES IN CHILDREN WITH LCHAD DEFICIENCY. ( 20589231 )
2009
13
Increased lipolysis in LCHAD deficiency. ( 17160563 )
2007
14
Homogeneous amplification nucleobase quenching assay to detect the E474Q LCHAD deficiency mutation. ( 15857179 )
2005
15
Maternal acute fatty liver of pregnancy and the associated risk for long-chain 3-hydroxyacyl-coenzyme a dehydrogenase (LCHAD) deficiency in infants. ( 14988877 )
2004
16
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. ( 12621125 )
2003
17
Placental floor infarction complicating the pregnancy of a fetus with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency. ( 11243734 )
2001
18
Long-chain L 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency does not appear to be the primary cause of lipid myopathy in patients with Bannayan-Riley-Ruvalcaba syndrome (BRRS). ( 10076877 )
1999
19
Improved detection of the G1528C mutation in LCHAD deficiency. ( 8809345 )
1996

Variations for Lchad Deficiency

UniProtKB/Swiss-Prot genetic disease variations for Lchad Deficiency:

71
id Symbol AA change Variation ID SNP ID
1 HADHA p.Glu510Gln VAR_002273 rs137852769
2 HADHA p.Leu342Pro VAR_021127 rs137852772

ClinVar genetic disease variations for Lchad Deficiency:

6 (show all 28)
id Gene Variation Type Significance SNP ID Assembly Location
1 HADHA NM_000182.4(HADHA): c.1528G> C (p.Glu510Gln) single nucleotide variant Pathogenic rs137852769 GRCh37 Chromosome 2, 26418053: 26418053
2 HADHA NM_000182.4(HADHA): c.180+3A> G single nucleotide variant Pathogenic rs781222705 GRCh37 Chromosome 2, 26461799: 26461799
3 HADHA NM_000182.4(HADHA): c.157C> T (p.Arg53Ter) single nucleotide variant Pathogenic rs147103714 GRCh37 Chromosome 2, 26461825: 26461825
4 HADHA NM_000182.4(HADHA): c.1981_1999del19 (p.Leu661Serfs) deletion Likely pathogenic rs749848370 GRCh37 Chromosome 2, 26415180: 26415198
5 HADHA NM_000182.4(HADHA): c.1967delT (p.Leu656Terfs) deletion Pathogenic/Likely pathogenic rs779113356 GRCh37 Chromosome 2, 26415212: 26415212
6 HADHA NM_000182.4(HADHA): c.1793_1794delAT (p.His598Argfs) deletion Likely pathogenic rs769580842 GRCh37 Chromosome 2, 26416537: 26416538
7 HADHA NM_000182.4(HADHA): c.703C> T (p.Arg235Trp) single nucleotide variant Likely pathogenic rs786204607 GRCh37 Chromosome 2, 26438018: 26438018
8 HADHA NM_000182.4(HADHA): c.274_278delTCATC (p.Ser92Lysfs) deletion Pathogenic/Likely pathogenic rs781205883 GRCh37 Chromosome 2, 26459759: 26459763
9 HADHA NM_000182.4(HADHA): c.919-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs200017313 GRCh37 Chromosome 2, 26435497: 26435497
10 HADHA NM_000182.4(HADHA): c.1918C> T (p.Gln640Ter) single nucleotide variant Pathogenic rs794727198 GRCh37 Chromosome 2, 26415261: 26415261
11 HADHA NM_000182.4(HADHA): c.2146+1G> A single nucleotide variant Pathogenic rs794727219 GRCh37 Chromosome 2, 26414351: 26414351
12 HADHA NM_000182.4(HADHA): c.403A> G (p.Lys135Glu) single nucleotide variant Likely pathogenic rs794727700 GRCh37 Chromosome 2, 26457135: 26457135
13 HADHA NM_000182.4(HADHA): c.2146+2T> C single nucleotide variant Likely pathogenic rs1057516350 GRCh37 Chromosome 2, 26414350: 26414350
14 HADHA NM_000182.4(HADHA): c.2071G> T (p.Glu691Ter) single nucleotide variant Likely pathogenic rs1057517132 GRCh38 Chromosome 2, 26191558: 26191558
15 HADHA NM_000182.4(HADHA): c.1915_1918delTATC (p.Tyr639Argfs) deletion Likely pathogenic rs1057517397 GRCh38 Chromosome 2, 26192392: 26192395
16 HADHA NM_000182.4(HADHA): c.1811delG (p.Gly604Alafs) deletion Pathogenic/Likely pathogenic rs747985669 GRCh37 Chromosome 2, 26416520: 26416520
17 HADHA NM_000182.4(HADHA): c.1690-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs1057516217 GRCh37 Chromosome 2, 26416643: 26416643
18 HADHA NM_000182.4(HADHA): c.1590delC (p.Lys531Serfs) deletion Likely pathogenic rs1057516991 GRCh38 Chromosome 2, 26195122: 26195122
19 HADHA NM_000182.4(HADHA): c.1344_1345delGT (p.Phe449Terfs) deletion Likely pathogenic rs1057516734 GRCh37 Chromosome 2, 26424065: 26424066
20 HADHA NM_000182.4(HADHA): c.1237A> T (p.Lys413Ter) single nucleotide variant Likely pathogenic rs1057516461 GRCh37 Chromosome 2, 26424173: 26424173
21 HADHA NM_000182.4(HADHA): c.1221-1G> C single nucleotide variant Likely pathogenic rs1057516233 GRCh37 Chromosome 2, 26424190: 26424190
22 HADHA NM_000182.4(HADHA): c.1202delA (p.Gln401Argfs) deletion Likely pathogenic rs1057517087 GRCh37 Chromosome 2, 26426949: 26426949
23 HADHA NM_000182.4(HADHA): c.1086-3_1092del10 deletion Likely pathogenic rs1057516460 GRCh38 Chromosome 2, 26204190: 26204199
24 HADHA NM_000182.4(HADHA): c.1052delA (p.Lys351Argfs) deletion Likely pathogenic rs1057516556 GRCh37 Chromosome 2, 26432682: 26432682
25 HADHA NM_000182.4(HADHA): c.515delC (p.Pro172Leufs) deletion Likely pathogenic rs1057517282 GRCh37 Chromosome 2, 26455086: 26455086
26 HADHA NM_000182.4(HADHA): c.453+1G> A single nucleotide variant Likely pathogenic rs1057516417 GRCh37 Chromosome 2, 26457084: 26457084
27 HADHA NM_000182.4(HADHA): c.240G> A (p.Trp80Ter) single nucleotide variant Likely pathogenic rs1057516326 GRCh38 Chromosome 2, 26236929: 26236929
28 HADHA NM_000182.4(HADHA): c.1A> G (p.Met1Val) single nucleotide variant Likely pathogenic rs1057517430 GRCh38 Chromosome 2, 26244596: 26244596

Expression for Lchad Deficiency

Search GEO for disease gene expression data for Lchad Deficiency.

Pathways for Lchad Deficiency

GO Terms for Lchad Deficiency

Sources for Lchad Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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