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:
50OMIM, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 52Orphanet, 68UniProtKB/Swiss-Prot, 12diseasecard, 25GTR, 66UMLS, 67UMLS via Orphanet, 29ICD10 via Orphanet, 38MESH via Orphanet, 35MedGen, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Lchad Deficiency:

Name: Lchad Deficiency 50 46 23 24 52 68
Aflp 46 52 68
Long-Chain 3-Hydroxyacyl-Coenzyme a Dehydrogenase Deficiency 46 24
3-Hydroxyacyl-Coa Dehydrogenase, Long Chain, Deficiency 24 25
Long-Chain 3-Hydroxy Acyl Coa Dehydrogenase Deficiency 46 24
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 23 52
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 50 24
Long-Chain 3-Oh Acyl-Coa Dehydrogenase Deficiency 46 24
Trifunctional Protein Deficiency, Type 1 24 66
Fatty Liver, Acute, of Pregnancy 50 12
 
Acute Fatty Liver of Pregnancy 46 52
Trifunctional Protein Deficiency with Myopathy and Neuropathy 66
3-Hydroxyacyl-Coa Dehydrogenase Long Chain Deficiency 46
Long-Chain 3-Hydroxyl-Coa Dehydrogenase Deficiency 68
Trifunctional Protein Deficiency Type 1 46
Maternal Acute Fatty Liver of Pregnancy 68
Hellp Syndrome, Maternal, of Pregnancy 50
Acute Fatty Liver, Gestational 46
Lchadd 52

Characteristics:

Orphanet epidemiological data:

52
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),1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: early childhood

HPO:

62
lchad deficiency:
Mortality/Aging: sudden death


Classifications:



External Ids:

OMIM50 609016
UMLS via Orphanet67 C1455728, C0342786
ICD10 via Orphanet29 O26.6, E71.3
MESH via Orphanet38 C537957
MedGen35 CN074230

Summaries for Lchad Deficiency

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NIH Rare Diseases:46 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 myalgia, weakness and pigmentary retinopathy. 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, eye and testes.

UniProtKB/Swiss-Prot:68 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:24 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:50 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:


myalgia, weakness

Drugs & Therapeutics for Lchad Deficiency

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

(show all 9)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
GlycerolPhase 221056-81-5753
Synonyms:
1,2,3-Trihydroxypropane
1,2,3-propanetriol
1,2,3-trihydroxypropane
Bulbold
Cristal
E 422
Emery 916
Glyceol Opthalgan
Glycerin
Glycerin,anhydrous
Glycerine
Glycerinum
Glyceritol
 
Glycerol
Glycerol 85%
Glycyl alcohol
Glyrol
Glysanin
IFP
Incorporation factor
Mackstat H 66
Monoctanoin component D
Osmoglyn
Pricerine 9091
Propanetriol
RG-S
Trihydroxypropane
Tryhydroxypropane
2carnitineNutraceuticalPhase 2152
3
Heparin7799005-49-6772, 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
Unfractionated heparin
Vetren
Vitrum AB
WY 90493RD
alpha-Heparin
cis-.beta.-Carboxystyrene
cis-Cinnamic acid
enoxaparin
heparin
4insulin4401
5calcium heparin779
6pyruvateNutraceutical34
7
vitamin eNutraceutical39259-02-914985
Synonyms:
(+)-a-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)-α-tocopherol
(R,R,R)-a-Tocopherol
(R,R,R)-alpha-Tocopherol
(R,R,R)-α-tocopherol
5,7,8-Trimethyltocol
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
Vitec
a-D-Tocopherol
a-Tocopherol
alpha-Tocopherol
alpha-delta-Tocopherol
alpha-tocopherol
d-α-tocopherol
delta-alpha-Tocopherol
8TocopherolNutraceutical395
9TocotrienolNutraceutical391

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 Inherited Disorders of Energy MetabolismAvailableNCT01461304
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 Deficiency25
2 Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency23 HADHA

Anatomical Context for Lchad Deficiency

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MalaCards organs/tissues related to Lchad Deficiency:

34
Liver, Eye, Testes, Skin

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
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
5
Patient specific induced pluripotent stem cells derived RPE cells: understanding the pathogenesis of retinopathy in LCHAD deficiency. (24894396)
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
Paternal isodisomy of chromosome 2 as a cause of long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency. (20583174)
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
EFFECT OF FEEDING, EXERCISE AND GENOTYPE ON PLASMA 3-HYDROXYACYLCARNITINES IN CHILDREN WITH LCHAD DEFICIENCY. (20589231)
2009
11
Acute fatty liver of pregnancy and neonatal long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (LCHAD) deficiency. (18408953)
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:

68
id Symbol AA change Variation ID SNP ID
1HADHAp.Glu510GlnVAR_002273rs137852769
2HADHAp.Leu342ProVAR_021127rs137852772

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 pathogenicrs779113356GRCh38Chr 2, 26192343: 26192343
3NM_000182.4(HADHA): c.1793_1794delAT (p.His598Argfs)deletionLikely pathogenicrs769580842GRCh38Chr 2, 26193668: 26193669
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, Pathogenicrs781205883GRCh38Chr 2, 26236891: 26236895
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 pathogenicrs794727700GRCh38Chr 2, 26234267: 26234267
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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet