Version 2.78

Description

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

Basic Part Properties

Part Display Name
GABA free and total panel
Part Type
Component (Describes the core component or analyte measured)
Created On
2013-09-01
Construct for LOINC Short Name
GABA free+total Pnl

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP173713-1

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) Gamma 氨基丁酸游离型与总计组套
Synonyms: 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
es-ES Spanish (Spain) Gamma aminobutirato libre y total
it-IT Italian (Italy) Gamma amminobutirrato libero e totale, panel
tr-TR Turkish (Turkey) Gamma aminobutirat serbest ve total panel
ru-RU Russian (Russian Federation) Гамма аминобутират свободный и общий панель
nl-NL Dutch (Netherlands) gamma-aminobutyraat vrij en totaal panel