Description

Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). VLCAD deficiency is cause by mutations in the ACADVL gene, which are inherited in an autosomal recessive pattern. Signs and symptoms of VLCAD deficiency typically appear during infancy or early childhood and can include low blood sugar (hypoglycemia), lack of energy (lethargy), and muscle weakness. Affected individuals are also at risk for serious complications such as liver abnormalities and life-threatening heart problems. When symptoms begin in adolescence or adulthood, they tend to be milder and usually do not involve the heart. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Very long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency

Basic Part Properties

Part Name
Very long chain hydroxy acyl dehydrogenase deficiency
Part Display Name
Very long chain hydroxy acyl dehydrogenase deficiency
Part Type
Component (Describes the core component or analyte measured)
Created On
2006-09-01
Construct for LOINC Short Name
VLCADD

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP56760-9

Language Variants Get Info

TagLanguageTranslation
zh-CNChinese (China)极长链羟基酰基辅酶 A 脱氢酶缺陷
Synonyms: VLCAD;VLCADD;极长链羟基酰基-CoA 脱氢酶缺陷;极长链羟基酰基脱氢酶缺陷;极长链羟基酰基脱氢酶缺陷(Very Long Chain Hydroxy Acyl Dehydrogenase Deficiency,VLCADD);极长链羟基酰基辅酶 A 脱氢酶缺陷(Very Long Chain Hydroxy Acyl Dehydrogenase Deficiency,VLCADD);极长链羟酰-CoA 脱氢酶缺陷;极长链羟酰基-CoA 脱氢酶缺陷;极长链羟酰基脱氢酶缺陷;极长链羟酰基辅酶 A
fr-CAFrench (Canada)Déficit en hydroxyacyldéshydrogénase à très longue chaîne
es-ESSpanish (Spain)Deficiencia de la acil-CoA dehidrogenasa de muy larga cadena
it-ITItalian (Italy)Idrossi acil deidrogenasi a catena molto lunga, deficit
Synonyms: Deficit di idrossi acil deidrogenasi a catena molt
tr-TRTurkish (Turkey)Çok uzun zincirli hidroksi açil dehidrojenaz yetmezliği
nl-NLDutch (Netherlands)zeer lange keten hydroxy-acyldehydrogenasedeficiëntie
Synonyms: zeer lange keten hydroxy-acyldehydrogenase deficientie
fr-BEFrench (Belgium)Déficit en hydroxyacyldéshydrogénase à très longue chaîne
el-GRGreek (Greece)Ανεπάρκεια αφυδρογονάσης υδροξυ-ακυλικών πολύ μακράς αλύσου
Synonyms: Ανεπάρκεια αφυδρογονάσης υδροξυ-ακυλικών πολύ μακράς αλύσου