LP201790-5
Succinate semialdehyde dehydrogenase
Active
Description
Succinate semialdehyde dehydrogenase (SSADH) [UniProt: P51649] is a mitochondrial protein involved in the degradation of gamma-aminobutyric acid (GABA), an inhibitory neurotransmitter. Decreased levels of SSADH causes succinate semialdehyde dehydrogenase deficiency (SSADHD), a condition characterized by developmental delay, hypotonia, mental retardation, ataxia, seizures, hyperkinetic behavior, aggression, and sleep disturbances.[OMIM: 271980] Prenatal diagnosis of SSADH deficiency may be performed by enzyme analysis in amniotic fluid and cells. PMID: 8464836 Source: Regenstrief LOINC
Basic Part Properties
- Part Name
- Succinate semialdehyde dehydrogenase
- Part Display Name
- Succinate semialdehyde dehydrogenase
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2015-10-28
- Construct for LOINC Short Name
- SSADH
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) | 琥珀酸半醛脱氢酶 Synonyms: SSADH |
| fr-CA | French (Canada) | Semialdéhyde succinate déshydrogénase |
| es-ES | Spanish (Spain) | Succinato-semialdehído deshidrogenasa |
| it-IT | Italian (Italy) | Deidrogenasi succinato semialdeide |
| tr-TR | Turkish (Turkey) | Süksinat semialdehid dehidrojenaz |
| nl-NL | Dutch (Netherlands) | succinaat-semialdehyde-dehydrogenase |
| fr-FR | French (France) | Succinate semialdéhyde déshydrogénase |
| pl-PL | Polish (Poland) | Dehydrogenaza semialdehydu bursztynowego Synonyms: SSADH |
| el-GR | Greek (Greece) | Ηλεκτρική ημιαλδεϋδική αφυδρογονάση Synonyms: Ηλεκτρική ημιαλδεϋδική αφυδρογονάση |
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://