LP174561-3
Isobutyryl-CoA dehydrogenase deficiency
Active
Description
Isobutyryl-coenzyme A dehydrogenase deficiency (isobutyrylglycinuria; IBG) is an inherited disorder characterized by inadequate levels of an enzyme that helps break down the amino acid valine. Signs and symptoms of this disorder may not appear until late infancy or childhood and can include failure to thrive, dilated cardiomyopathy, seizures, anemia, and very low blood levels of carnitine. This condition may be worsened by periods of fasting or infections that increase the body's demand for energy. Isobutyrylglycinuria is caused by mutations in the ACAD8 gene and has an autosomal recessive pattern of inheritance. Source: Regenstrief LOINC
Basic Part Properties
- Part Name
- Isobutyryl-CoA dehydrogenase deficiency
- Part Display Name
- Isobutyryl-CoA dehydrogenase deficiency
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2013-10-01
- Construct for LOINC Short Name
- IBG deficiency
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | 异丁酰辅酶 A 脱氢酶缺陷 Synonyms: 异丁酰 CoA 脱氢酶缺陷 |
| es-ES | Spanish (Spain) | Deficiencia de Isobutiril-CoA deshidrogenasa |
| it-IT | Italian (Italy) | Isobutirril-CoA deidrogenasi, deficit |
| tr-TR | Turkish (Turkey) | İzobütiril-KoA dehidrojenaz yetmezliği Synonyms: İzobütiril-KoA dehidrogenaz yetmezliği |
| ru-RU | Russian (Russian Federation) | Изобутирил-КоА дегидрогеназа недостаточность |
| nl-NL | Dutch (Netherlands) | isobutyryl-CoA-dehydrogenasedeficiëntie Synonyms: Isobutyryl-CoA dehydrogenase deficientie |
| fr-FR | French (France) | Isobutyryl CoA déshydrogénase carence |
| el-GR | Greek (Greece) | Ανεπάρκεια ισοβουτυρυλο-CoA αφυδρογονάσης Synonyms: Ανεπάρκεια ισοβουτυρυλο-CoA αφυδρογονάσης |
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://