MCID: LCH005
MIFTS: 41

Lchad Deficiency malady

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

Aliases & Classifications for Lchad Deficiency

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Sources:
49OMIM, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 51Orphanet, 67UniProtKB/Swiss-Prot, 11diseasecard, 24GTR, 65UMLS, 66UMLS via Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Lchad Deficiency:

Name: Lchad Deficiency 49 45 22 23 51 67
Aflp 45 51 67
Long-Chain 3-Hydroxyacyl-Coenzyme a Dehydrogenase Deficiency 45 23
3-Hydroxyacyl-Coa Dehydrogenase, Long Chain, Deficiency 23 24
Long-Chain 3-Hydroxy Acyl Coa Dehydrogenase Deficiency 45 23
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 22 51
Long-Chain 3-Oh Acyl-Coa Dehydrogenase Deficiency 45 23
Trifunctional Protein Deficiency, Type 1 23 65
Fatty Liver, Acute, of Pregnancy 49 11
Acute Fatty Liver of Pregnancy 45 51
 
Trifunctional Protein Deficiency with Myopathy and Neuropathy 65
3-Hydroxyacyl-Coa Dehydrogenase Long Chain Deficiency 45
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 23
Long-Chain 3-Hydroxyl-Coa Dehydrogenase Deficiency 67
Trifunctional Protein Deficiency Type 1 45
Maternal Acute Fatty Liver of Pregnancy 67
Hellp Syndrome, Maternal, of Pregnancy 49
Acute Fatty Liver, Gestational 45
Lchadd 51

Characteristics:

Orphanet epidemiological data:

51
aflp:
Inheritance: Multigenic/multifactorial; Age of onset: Adult
lchad deficiency:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Australia),1-9/1000000 (Germany),1-9/1000000 (Poland),1-9/100000 (Estonia); Age of onset: Infancy,Neonatal; Age of death: early childhood

HPO:

61
lchad deficiency:
Mortality/Aging: sudden death


Classifications:



External Ids:

OMIM49 609016
Orphanet51 243367, 5
UMLS via Orphanet66 C1455728, C0342786
ICD10 via Orphanet28 O26.6, E71.3
MESH via Orphanet37 C537957
MedGen34 CN074230
UMLS65 C1969443, C3711645

Summaries for Lchad Deficiency

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NIH Rare Diseases:45 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 aflp, is related to 3-hydroxyacyl-coa dehydrogenase deficiency and 3-hydroxyacyl-coenzyme a dehydrogenase deficiency, and has symptoms including pigmentary retinopathy, muscular hypotonia and cardiomyopathy. An important gene associated with Lchad Deficiency is HADHA (Hydroxyacyl-CoA Dehydrogenase/3-Ketoacyl-CoA Thiolase/Enoyl-CoA Hydratase (Trifunctional Protein), Alpha Subunit). Affiliated tissues include liver, heart and thyroid.

UniProtKB/Swiss-Prot:67 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).

Genetics Home Reference:23 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:49 Isolated deficiency of long-chain 3-hydroxyl-CoA dehydrogenase (LCHAD) is an autosomal recessive disorder characterized... (609016) more...

Related Diseases for Lchad Deficiency

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



Diseases related to lchad deficiency

Symptoms for Lchad Deficiency

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Clinical features from OMIM:

609016

HPO human phenotypes related to Lchad Deficiency:

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

UMLS symptoms related to Lchad Deficiency:


weakness, myalgia

Drugs & Therapeutics for Lchad Deficiency

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

(show all 18)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
GlycerolexperimentalPhase 219156-81-5753
Synonyms:
1,2,3-Trihydroxypropane
Bulbold
Cristal
E 422
Emery 916
Glyceol Opthalgan
Glycerin
Glycerine
Glyceritol
Glycerol
 
Glycyl alcohol
Glyrol
Glysanin
IFP
Incorporation factor
Mackstat H 66
Osmoglyn
Pricerine 9091
Propanetriol
RG-S
Trihydroxypropane
Tryhydroxypropane
2carnitineNutraceuticalPhase 2146
3
Heparinapproved, investigational7199005-49-6772, 46507594
Synonyms:
101921-26-0
102-94-3
102785-31-9
104521-37-1
11078-24-3
11129-39-8
12656-11-0
2-o-sulfohexopyranuronosyl-(1->4)-2-deoxy-3-o-sulfo-2-(sulfoamino)hexopyranosyl-(1->4)-2-o-sulfohexopyranuronosyl-(1->4)-2-acetamido-2-deoxy-6-o-sulfohexopyranose
37324-73-5
6-[6-[6-[5-acetamido-4,6-dihydroxy-2-(sulfooxymethyl)oxan-3-yl]oxy-2-carboxy-4-hydroxy-5-sulfooxyoxan-3-yl]oxy-2-(hydroxymethyl)-5-(sulfoamino)-4-sulfooxyoxan-3-yl]oxy-3,4-dihydroxy-5-sulfooxyoxane-2-carboxylic acid
9041-08-1
9045-22-1
9075-96-1
913079-23-9
91449-79-5
AC1L19ZN
AC1L1ROY
ALFA 87-120
ALFA 87-163
ALFA 87-198
ALFA 87-81
ALFA 88-247
AR-1E4539
Allocinnamic acid
Ardeparin
Ardeparin sodium
Arteven
Bemiparin
Bemiparin sodium
CID772
CID8784
CY 216
Calciparine
Certoparin
Clexane
Clivarin
Clivarine
Cy 222
D006495
D017984
DB00407
DB01225
Dalteparin
Dalteparin sodium
Depo-Heparin
EINECS 232-681-7
EMT 966
EMT 967
EMT-966
EMT-967
EMT966
EMT967
Enoxaparin
Enoxaparin sodium
Enoxaparine
Eparina
Eparina [DCIT]
FR 860
Fluxum
Fragmin A
Fragmin B
Fragmin IV
Fraxiparin
H 2149
HSDB 3094
Hed-heparin
Hep Flush Kit in plastic container
Hep-Lock
Hep-Lock U/P
Hep-lock
Heparin
Heparin CY 216
Heparin Lock Flush
Heparin Lock Flush in plastic container
Heparin Lock Flush preservative free
Heparin Lock Flush preservative free in plastic container
Heparin Sodium
Heparin natrium
Heparin sodium
Heparin sodium 1,000 units and sodium chloride 0.9% in plastic container
Heparin sodium 1,000 units in dextrose 5% in plastic container
Heparin sodium 1,000 units in sodium chloride 0.9% in plastic container
Heparin sodium 10,000 units in dextrose 5%
Heparin sodium 10,000 units in dextrose 5% in plastic container
Heparin sodium 10,000 units in sodium chloride 0.45%
Heparin sodium 10,000 units in sodium chloride 0.9%
Heparin sodium 12,500 units in dextrose 5%
Heparin sodium 12,500 units in dextrose 5% in plastic container
Heparin sodium 12,500 units in sodium chloride 0.45% in plastic container
Heparin sodium 12,500 units in sodium chloride 0.9%
Heparin sodium 2,000 units and sodium chloride 0.9% in plastic container
Heparin sodium 2,000 units in dextrose 5% in plastic container
Heparin sodium 2,000 units in sodium chloride 0.9% in plastic container
Heparin sodium 20,000 units and dextrose 5% in plastic container
Heparin sodium 20,000 units in dextrose 5% in plastic container
Heparin sodium 25,000 units and dextrose 5% in plastic container
 
Heparin sodium 25,000 units in dextrose 5%
Heparin sodium 25,000 units in dextrose 5% in plastic container
Heparin sodium 25,000 units in sodium chloride 0.45% in plastic container
Heparin sodium 25,000 units in sodium chloride 0.9%
Heparin sodium 25,000 units in sodium chloride 0.9% in plastic container
Heparin sodium 5,000 units and sodium chloride 0.9% in plastic container
Heparin sodium 5,000 units in dextrose 5% in plastic container
Heparin sodium 5,000 units in sodium chloride 0.45%
Heparin sodium 5,000 units in sodium chloride 0.9%
Heparin sodium 5,000 units in sodium chloride 0.9% in plastic container
Heparin sodium in plastic container
Heparin sodium preservative Free
Heparin sulfate
Heparin sulphate
Heparin, Low Molecular Weight
Heparin, Low-Molecular-Weight
Heparin, sodium salt
Heparina
Heparina [INN-Spanish]
Heparinate
Heparine
Heparine [INN-French]
Heparinic acid
Heparinsodiumsalt
Heparinum
Heparinum [INN-Latin]
Heparinum natricum
Hepathrom
Hepflush-10
Inno-Hep
Innohep
Isocinnamic acid
KB 101
Kabi 2165
LHN 1
LMWH
Lioton 1000
Lipo-hepin
Liquaemin
Liquaemin Lock Flush
Liquaemin Sodium
Liquaemin sodium preservative free
Liquemin
Logiparin
Lovenox
Lovenox HP
Low Molecular Weight Heparin
Low molecular weight heparin
Low molecular weight heparin sodium
Low-Molecular-Weight Heparin
Minolteparin sodium
MolPort-003-760-257
Multiparin
NSC174025
Nadroparin
Nadroparine
Novoheparin
OP 386
OP 622
Octaparin
PK 10,169
PK-10,169
PK-10169
PK10,169
PK10169
Pabyrin
Panheprin
Parnaparin
Parnaparin sodium
Parvoparin
Pularin
Reviparin
Reviparin sodium
Ro 11
Sandoparin
Sodium acid heparin
Sodium heparin
Sodium heparinate
Subeparin
Sublingula
Thromboliquine
Tinzaparin
Tinzaparin sodium
Triofiban
UNII-12M44VTJ7B
UNII-3S182ET3UA
UNII-E47C0NF7LV
UNII-T2410KM04A
UNII-ZZ45AB24CA
Vetren
Vitrum AB
WY 90493RD
alpha-Heparin
cis-.beta.-Carboxystyrene
cis-Cinnamic acid
enoxaparin
heparin
4
Vitamin Eapproved, nutraceutical37159-02-914985
Synonyms:
(+)-a-Tocopherol
(+)-alpha-Tocopherol
(+)-alpha-tocopherol
(+)-α-tocopherol
(2R)-2,5,7,8-TETRAMETHYL-2-[(4R,8R)-4,8,12-trimethyltridecyl]chroman-6-ol
(2R)-3,4-Dihydro-2,5,7,8-tetramethyl-2-[(4R,8R)-4,8,12-trimethyltridecyl]-2H-1-benzopyran-6-ol
(2R,4'R,8'R)-a-Tocopherol
(2R,4'R,8'R)-alpha-Tocopherol
(2R,4'R,8'r)-alpha-tocopherol
(R,R,R)-a-Tocopherol
(R,R,R)-alpha-Tocopherol
(R,R,R)-alpha-tocopherol
(R,R,R)-α-tocopherol
5,7,8-Trimethyltocol
Amino-Opti-E
Aquasol E
D-alpha-Tocopherol
Daltose
Denamone
E-200 I.U. Softgels
 
E-Complex-600
E-Ferol
E-Vitamin succinate
Eprolin
Gordo-Vite E
Phytogermin
Phytogermine
RRR-alpha-tocopherol
RRR-alpha-tocopheryl
Tocopherol
Vitamin E
Vitamin Ea
Vitamin Plus E Softgells
Vitamin e
Vitec
a-D-Tocopherol
a-Tocopherol
alpha-Tocopherol
alpha-delta-Tocopherol
d-alpha-tocopherol
d-α-tocopherol
delta-alpha-Tocopherol
5Pharmaceutical Solutions7004
6Protective Agents5651
7Insulin, Globin Zinc4278
8calcium heparin719
9insulin4278
10Tocotrienols372
11Tocopherols376
12Micronutrients3901
13Trace Elements3900
14Antioxidants2442
15Vitamins3857
16pyruvateNutraceutical30
17TocopherolNutraceutical376
18TocotrienolNutraceutical372

Interventional clinical trials:

idNameStatusNCT IDPhase
1High Protein Diet in Patients With Long-chain Fatty Acid Oxidation DisordersCompletedNCT01494051Phase 1, Phase 2
2Study of Triheptanoin for Treatment of Long-Chain Fatty Acid Oxidation DisorderCompletedNCT01379625Phase 2
3An Open-label Phase 2 Study of UX007 (Triheptanoin) in Subjects With Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD)Active, not recruitingNCT01886378Phase 2
4Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD) Extension Study for Subjects Previously Enrolled in Triheptanoin Studies.Enrolling by invitationNCT02214160Phase 2
5Fatty Acid Oxidation Disorders & Body Weight Regulation GrantCompletedNCT00654004
6Fatty Acid Oxidation Defects and Insulin SensitivityRecruitingNCT02517307
7Fat and Sugar Metabolism During Exercise in Patients With Metabolic MyopathyRecruitingNCT02635269
8Compassionate Use of Triheptanoin (C7) for Fatty Acid Oxidation Disorders and Glycogen Storage DiseaseAvailableNCT01461304
9Vitamin E Treatment for Long-Chain 3-Hydroxyacyl Coenzyme A (CoA) Dehydrogenase (LCHAD) Associated NeuropathyTerminatedNCT00840112

Search NIH Clinical Center for Lchad Deficiency

Genetic Tests for Lchad Deficiency

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Genetic tests related to Lchad Deficiency:

id Genetic test Affiliating Genes
1 Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency22 HADHA

Anatomical Context for Lchad Deficiency

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MalaCards organs/tissues related to Lchad Deficiency:

33
Liver, Heart, Thyroid, Eye, Skin, Testes, Endothelial

Animal Models for Lchad Deficiency or affiliated genes

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Publications for Lchad Deficiency

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Articles related to Lchad Deficiency:

(show all 18)
idTitleAuthorsYear
1
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
2
Neuropsychological Development in Patients with Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) Deficiency. (26545880)
2015
3
Increased and early lipolysis in children with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency during fast. (25141826)
2014
4
Patient specific induced pluripotent stem cells derived RPE cells: understanding the pathogenesis of retinopathy in LCHAD deficiency. (24894396)
2014
5
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
6
Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening. (21103935)
2011
7
Perioperative management of a child with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency. (20470346)
2010
8
Elevated hydroxyacylcarnitines in a carrier of LCHAD deficiency during acute liver disease of pregnancy - a common feature of the pregnancy complication? (20363656)
2010
9
Paternal isodisomy of chromosome 2 as a cause of long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency. (20583174)
2010
10
Acute fatty liver of pregnancy and neonatal long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (LCHAD) deficiency. (18408953)
2009
11
EFFECT OF FEEDING, EXERCISE AND GENOTYPE ON PLASMA 3-HYDROXYACYLCARNITINES IN CHILDREN WITH LCHAD DEFICIENCY. (20589231)
2009
12
Increased lipolysis in LCHAD deficiency. (17160563)
2007
13
Homogeneous amplification nucleobase quenching assay to detect the E474Q LCHAD deficiency mutation. (15857179)
2005
14
Maternal acute fatty liver of pregnancy and the associated risk for long-chain 3-hydroxyacyl-coenzyme a dehydrogenase (LCHAD) deficiency in infants. (14988877)
2004
15
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
16
Placental floor infarction complicating the pregnancy of a fetus with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency. (11243734)
2001
17
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
18
Improved detection of the G1528C mutation in LCHAD deficiency. (8809345)
1996

Variations for Lchad Deficiency

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

67
id Symbol AA change Variation ID SNP ID
1HADHAp.Glu510GlnVAR_002273rs137852769
2HADHAp.Leu342ProVAR_021127

Clinvar genetic disease variations for Lchad Deficiency:

5 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1NM_000182.4(HADHA): c.1528G> C (p.Glu510Gln)single nucleotide variantPathogenicrs137852769GRCh37Chr 2, 26418053: 26418053
2NM_000182.4(HADHA): c.1967delT (p.Leu656Terfs)deletionLikely pathogenicrs779113356GRCh37Chr 2, 26415212: 26415212
3NM_000182.4(HADHA): c.1793_1794delAT (p.His598Argfs)deletionLikely pathogenicrs769580842GRCh37Chr 2, 26416537: 26416538
4HADHANM_000182.4(HADHA): c.703C> T (p.Arg235Trp)single nucleotide variantLikely pathogenicrs786204607GRCh37Chr 2, 26438018: 26438018
5NM_000182.4(HADHA): c.1981_1999del19 (p.Leu661Serfs)deletionLikely pathogenicrs749848370GRCh37Chr 2, 26415180: 26415198
6HADHANM_000182.4(HADHA): c.274_278delTCATC (p.Ser92Lysfs)deletionLikely pathogenic, Pathogenicrs781205883GRCh37Chr 2, 26459759: 26459763
7HADHANM_000182.4(HADHA): c.919-2A> Gsingle nucleotide variantPathogenicrs200017313GRCh37Chr 2, 26435497: 26435497
8NM_000182.4(HADHA): c.1918C> T (p.Gln640Ter)single nucleotide variantPathogenicrs794727198GRCh37Chr 2, 26415261: 26415261
9NM_000182.4(HADHA): c.2146+1G> Asingle nucleotide variantPathogenicrs794727219GRCh37Chr 2, 26414351: 26414351
10HADHANM_000182.4(HADHA): c.403A> G (p.Lys135Glu)single nucleotide variantLikely pathogenicrs794727700GRCh37Chr 2, 26457135: 26457135
11HADHANM_000182.4(HADHA): c.180+3A> Gsingle nucleotide variantPathogenicrs781222705GRCh37Chr 2, 26461799: 26461799
12HADHANM_000182.4(HADHA): c.157C> T (p.Arg53Ter)single nucleotide variantPathogenicrs147103714GRCh37Chr 2, 26461825: 26461825

Expression for genes affiliated with Lchad Deficiency

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Search GEO for disease gene expression data for Lchad Deficiency.

Pathways for genes affiliated with Lchad Deficiency

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GO Terms for genes affiliated with Lchad Deficiency

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Sources for Lchad Deficiency

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet