Version 2.78

Term Description

CSF testing of GABA is used to diagnose several inherited disorders, including SSADH deficiency, GABA-T deficiency, homocarnosinosis and pyridoxal-5-phosphate dependent seizures.
Source: Regenstrief LOINC

Part Description

LP173713-1   Gamma aminobutyrate free and total panel
Gamma-aminobutyric acid (GABA), a primary inhibitory neurotransmitter in the brain, is synthesized from glutamate by the pyridoxine dependent enzyme glutamic acid decarboxylase (GAD). The first step in the catabolism of GABA involves degradation to succinic semialdehyde in a reaction catalyzed by GABA-transaminase (GABA-T). Succinic acid is then converted to succinic semialdehyde by the enzyme succinic semialdehyde dehydrogenase (SSADH). GABA is also present in non-neuronal tissues and may exist in peripheral and central tissues in the form of a dipeptide with histidine, as a compound known as homocarnosine. Several inherited disorders of GABA metabolism have been identified; these are SSADH deficiency, GABA-T deficiency and homocarnosinosis. The later two are extremely rare and require CSF determination of both free and total GABA. The clinical presentation of these cases may vary considerably and include psychomotor retardation, convulsions, ataxia, hypotonia, hyperflexia and delayed speech development. In addition an autosomal recessive disorder has been characterized in a group of patients with pyridoxine-dependent seizures. In these cases the presumed abnormality is due to reduced binding of pyridoxal-5-phosphate to GAD. Elevation of CSF free and total GABA are characteristic of GABA-T and SSADH deficiency, where-as low CSF GABA has been reported in pyridoxal-5-phosphate dependent seizures. Source: Regenstrief Help

Panel Hierarchy

Details for each LOINC in Panel LHC-Forms

LOINC Name R/O/C Cardinality Example UCUM Units
74439-1 GABA free and total panel - Cerebral spinal fluid
Indent72420-3 Gamma aminobutyrate.free [Moles/volume] in Cerebral spinal fluid umol/L
Indent26594-2 Gamma aminobutyrate [Moles/volume] in Cerebral spinal fluid umol/L

Fully-Specified Name

Component
Gamma aminobutyrate free and total panel
Property
-
Time
Pt
System
CSF
Scale
-
Method

Additional Names

Short Name
GABA free+total Pnl CSF
Display Name
GABA free and total panel (CSF)
Consumer Name Alpha Get Info
Free and Total GABA Panel, Spinal fluid

Basic Attributes

Class
PANEL.CHEM
Type
Laboratory
First Released
Version 2.46
Last Updated
Version 2.58
Order vs. Observation
Order
Panel Type
Panel

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Gamma aminobutirato libre y total:Propiedades mixtas (sólo paneles):Punto temporal:Líquido Cefalorraquideo:-:
es-MX Spanish (Mexico) Panel total y libre de gamma aminobutirato:-:Punto temporal:Fluído espinal cerebral:-:
fr-FR French (France) Gamma aminobutyrate libre et total panel:-:Ponctuel:Liquide céphalorachidien:-:
it-IT Italian (Italy) Gamma amminobutirrato libero e totale, panel:-:Pt:LCS:-:
Synonyms: Chimica Liquido cerebrospinale Punto nel tempo (episodio) Set di prescrizione chimica
nl-NL Dutch (Netherlands) gamma-aminobutyraat vrij en totaal panel:-:moment:liquor cerebrospinalis:-:
pt-BR Portuguese (Brazil) Gama aminobutirato livre e total painel::Pt:LCR:-:
ru-RU Russian (Russian Federation) Гамма аминобутират свободный и общий панель:-:ТчкВрм:ЦСЖ:-:
Synonyms: ГАМК.свободный Гамма-аминобутират Точка во времени;Момент Цереброспинальная жидкость
zh-CN Chinese (China) Gamma 氨基丁酸游离型与总计组套:-:时间点:脑脊液:-:
Synonyms: 4-氨基丁酸;GABA;Gamma 氨基丁酸（Gamma aminobutyric acid，GABA）;Gamma-氨基丁酸;G-氨基丁酸;γ氨基丁酸;γ-氨基丁酸;哌啶酸 CSF CSF;脊髓液;Cerebral spinal fluid;脑脊髓液 Gamma 氨基丁酸（γ氨基丁酸、4-氨基丁酸、GABA、Gamma-氨基丁酸、G-氨基丁酸、γ-氨基丁酸）游离型与总计组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;游离型与总 Gamma 氨基丁酸医嘱组;γ氨基丁酸游离型与总计医嘱组 全体数量 全部 共计 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类 医嘱套餐 医嘱套餐类 医嘱套餐组 医嘱组 医嘱组.化学试验;化学组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;化学医嘱组类;医嘱组.化学;医嘱组.化学检验项目;医嘱组类.化学;医嘱组类.化学检验项目;医嘱组类.化学试验;实验室医嘱组类.化学;实验室医嘱组类.化学检验项目;实验室医嘱组类.化学试验 医嘱组合 医嘱组合类 医嘱组套 医嘱组套类 医嘱组类 多重;多重型;多重标尺类型;多重精度类型 套餐 套餐医嘱 套餐医嘱组 套餐医嘱组类 实验室医嘱套餐 实验室医嘱套餐类 实验室医嘱组 实验室医嘱组合类 实验室医嘱组套 实验室医嘱组套类 实验室套餐医嘱组 实验室套餐医嘱组类 实验室检验项目医嘱组合类 实验室检验项目组合类 总 总和 总数 总量 总额 时刻;随机;随意;瞬间 检验医嘱组合类 检验项目医嘱组合类 检验项目组合类 氨基-n-丁酸 氨基丁酸盐 氨基丁酸酯 汇总 游离 游离型 4-氨基丁酸;GABA;Gamma 氨基丁酸（Gamma aminobutyric acid，GABA）;游离型 Gamma-氨基丁酸;游离型 G-氨基丁酸;游离型γ氨基丁酸;游离型γ-氨基丁酸;哌啶酸 组 组合 组合医嘱 组合类 组套 脊液 脊髓液 脑脊液（Cerebral spinal fluid，CSF） 脑脊髓液 非蛋白结合型 非蛋白质结合型

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=74439-1
Questionnaire definition
https://fhir.loinc.org/Questionnaire/?url=http://loinc.org/q/74439-1