LP199592-9
Adenylosuccinate
Active
Description
Adenylsuccinic acid is a substrate of the enzyme adenylosuccinase [EC 4.3.2.2] in purine metabolism pathway. The accumulation of adenylsuccinic acid in body fluids occurs due to a deficiency of adenylosuccinase, an enzyme that plays an important role in purine biosynthesis. PMID: 8412002 Patients with adenylosuccinase deficiency (ADLSD) present with severe psychomotor delay, hypotonia, growth deficiency, autism, and mild facial dysmorphic features, including brachycephaly, prominent metopic sutures, a small nose and low-set ears.[OMIM: 103050] Copyright Copyright ©2005-2009 Genome Alberta (Reference to original publication: Wishart DS, Knox C, Guo AC, et al. HMDB: a knowledgebase for the human metabolome. Nucleic Acids Res. 2009 37(Database issue):D603-610.) Source: Human Metabolome Database
Basic Part Properties
- Part Name
- Adenylosuccinate
- Part Display Name
- Adenylosuccinate
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2015-07-30
- Construct for LOINC Short Name
- Adenylosuccinate
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | 腺苷酸琥珀酸 Synonyms: 腺苷酸基琥珀酸; |
| fr-CA | French (Canada) | Adénylosuccinate |
| es-ES | Spanish (Spain) | Adenilosuccinato |
| it-IT | Italian (Italy) | Adenilosuccinato |
| tr-TR | Turkish (Turkey) | Adenilosüksinat |
| nl-NL | Dutch (Netherlands) | adenylosuccinaat |
| fr-FR | French (France) | Adénylosuccinate |
| pl-PL | Polish (Poland) | Adenylobursztynian Synonyms: Adenylosukcynian |
| el-GR | Greek (Greece) | Αδενυλοηλεκτρικό Synonyms: Αδενυλοηλεκτρικό |
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://