LP174558-9
Isovaleric acidemia
Active
Description
Isovaleric acidemia (IVA) is an inherited disorder characterized by inadequate levels of an enzyme that helps break down the amino acid leucine. In severe cases, signs and symptoms become apparent within a few days after birth and include poor feeding, vomiting, seizures, lethargy, coma, and possibly death. In other cases, signs and symptoms appear during childhood. Isovaleric acidemia is caused by mutations in the IVD gene and has an autosomal recessive pattern of inheritance. Source: Regenstrief LOINC
Basic Part Properties
- Part Name
- Isovaleric acidemia
- Part Display Name
- Isovaleric acidemia
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2013-10-01
- Construct for LOINC Short Name
- IVA
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | 异戊酸血症 Synonyms: 异戊酸血毒症; |
| es-ES | Spanish (Spain) | Acidemia isovalérica |
| it-IT | Italian (Italy) | Acidemia isovalerica |
| tr-TR | Turkish (Turkey) | Izovalerik asidemi |
| ru-RU | Russian (Russian Federation) | Изовалериановая ацидемия |
| nl-NL | Dutch (Netherlands) | isovaleriaanzuur acidemie |
| fr-FR | French (France) | Acidémie isovalérique |
| pl-PL | Polish (Poland) | Kwasica izowalerianowa |
| el-GR | Greek (Greece) | Ισοβαλερική οξυαιμία Synonyms: Ισοβαλερική οξυαιμία |
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://