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

Related Codes

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.

CodeSystem lookup

https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP199592-9

ConceptMap translate

https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP199592-9

Language Variants Get Info

LOINC Copyright

Copyright © 2025 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://loinc.org/license for the full LOINC copyright and license.