Lchad Deficiency malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Liver diseases, Reproductive diseases, Metabolic diseases, Endocrine diseases
Aliases & Descriptions for Lchad Deficiency:
Orphanet epidemiological data:51
Inheritance: Multigenic/multifactorial; Age of onset: Adult
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
Mortality/Aging: sudden death
Global: Genetic diseases, Rare diseases, Metabolic diseases
Anatomical: Neuronal diseases, Eye diseases, Liver diseases, Reproductive diseases, Endocrine diseases
Rare neurological diseases
Rare eye diseases
Rare hepatic diseases
Rare gynaecological and obstetric diseases
Inborn errors of metabolism
Rare endocrine diseases
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 tuberculosis and meningitis, 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, eye and skin.
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...
Clinical features from OMIM:609016
HPO human phenotypes related to Lchad Deficiency:(show all 6)
Drugs for Lchad Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 18)
Interventional clinical trials:
Search NIH Clinical Center for Lchad Deficiency
MalaCards organs/tissues related to Lchad Deficiency:33
Liver, Eye, Skin, Brain, Thyroid, T cells, Testes
Articles related to Lchad Deficiency:(show all 19)
UniProtKB/Swiss-Prot genetic disease variations for Lchad Deficiency:67
Clinvar genetic disease variations for Lchad Deficiency:5 (show all 12)
Search GEO for disease gene expression data for Lchad Deficiency.
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet