MCID: LCH005
MIFTS: 39

Lchad Deficiency malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Liver diseases, Reproductive diseases, Metabolic diseases, Endocrine diseases categories

Aliases & Classifications for Lchad Deficiency

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Sources:
46OMIM, 42NIH Rare Diseases, 21Genetics Home Reference, 48Orphanet, 9diseasecard, 61UMLS, 20GeneTests, 22GTR, 34MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Aliases & Descriptions for Lchad Deficiency:

Name: Lchad Deficiency 46 42 21 48
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 42 20 48
Acute Fatty Liver of Pregnancy 42 48 61
Long-Chain 3-Hydroxyacyl-Coenzyme a Dehydrogenase Deficiency 42 21
3-Hydroxyacyl-Coa Dehydrogenase, Long Chain, Deficiency 21 22
Long-Chain 3-Hydroxy Acyl Coa Dehydrogenase Deficiency 42 21
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 46 21
Long-Chain 3-Oh Acyl-Coa Dehydrogenase Deficiency 42 21
Trifunctional Protein Deficiency, Type 1 21 61
 
Fatty Liver, Acute, of Pregnancy 46 9
Lchadd 42 48
Aflp 42 48
Trifunctional Protein Deficiency with Myopathy and Neuropathy 61
3-Hydroxyacyl-Coa Dehydrogenase Long Chain Deficiency 42
Trifunctional Protein Deficiency Type 1 42
Hellp Syndrome, Maternal, of Pregnancy 46
Acute Fatty Liver, Gestational 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
acute fatty liver of pregnancy:
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


External Ids:

OMIM46 609016
Orphanet48 243367, 5
MESH via Orphanet34 C537957
ICD10 via Orphanet26 O26.6, E71.3
UMLS via Orphanet62 C1455728, C0342786

Summaries for Lchad Deficiency

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NIH Rare Diseases:42 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-coa dehydrogenase deficiency, is related to 3-hydroxyacyl-coa dehydrogenase deficiency and hepatitis, and has symptoms including 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, eye and skin.

Genetics Home Reference:21 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:46 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 retinopathy HP:0000488
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

Drugs & Therapeutics for Lchad Deficiency

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Drug clinical trials:

Search ClinicalTrials for Lchad Deficiency

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 Deficiency20 HADHA
2 Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency22

Anatomical Context for Lchad Deficiency

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MalaCards organs/tissues related to Lchad Deficiency:

31
Liver, Eye, Skin, Testes

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
Erratum to: increased and early lipolysis in children with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency during fast. (25413955)
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:

63
id Symbol AA change Variation ID SNP ID
1HADHAp.Glu510GlnVAR_002273rs137852769
2HADHAp.Leu342ProVAR_021127

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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Compounds 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
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet