LP174562-1
Short-chain acyl-CoA dehydrogenase deficiency
Active
Description
Short-chain acyl-CoA dehydrogenase deficiency (SCAD) is an inherited condition characterized by inadequate levels of an enzyme required to break down short-chain fatty acids. Some affected infants will exhibit vomiting, hypoglycemia, lethargy, poor feeding, failure to thrive, hypotonia, seizures, developmental delay, and microcephaly. Some individuals begin to experience signs and symptoms during adulthood, while others remain asymptomatic. Short-chain acyl-CoA dehydrogenase deficiency is caused by mutations in the ACADS gene and has an autosomal recessive pattern of inheritance. Source: Regenstrief LOINC
Basic Part Properties
- Part Name
- Short-chain acyl-CoA dehydrogenase deficiency
- Part Display Name
- Short-chain acyl-CoA dehydrogenase deficiency
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2013-10-01
- Construct for LOINC Short Name
- SCAD deficiency
LOINC Terminology Service (API) using HL7® FHIR® Get Info
Requests to this service require a free LOINC username and password. Below is a sample of the possible capabilities. See the LOINC Terminology Service documentation for more information.
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | 短链酰基辅酶 A 脱氢酶缺陷 Synonyms: 短链酰基 CoA 脱氢酶缺陷 |
| es-ES | Spanish (Spain) | Deficiencia de acil-CoA deshidrogenasa de cadena corta |
| it-IT | Italian (Italy) | Acil-CoA deidrogenasi a catena corta, deficit |
| tr-TR | Turkish (Turkey) | Kısa-zincir açil-KoA dehidrojenaz yetmezliği Synonyms: Kısa-zincir açil-KoA dehidrogenaz yetmezliği |
| ru-RU | Russian (Russian Federation) | Ацил-КоА-дегидрогеназа коротких цепей дефицит |
| nl-NL | Dutch (Netherlands) | korte-keten acyl-CoA-dehydrogenase-deficiëntie Synonyms: korte keten acyl-CoA dehydrogenase deficientie |
| fr-FR | French (France) | Acyl CoA déshydrogénase à courte chaine carence |
| el-GR | Greek (Greece) | Ανεπάρκεια ακυλο-CoA αφυδρογονάσης βραχείας αλύσου Synonyms: Ανεπάρκεια ακυλο-CoA αφυδρογονάσης βραχείας αλύσου |
LOINC Copyright
Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://