Version 2.78

Term Description

This test measures the galactose-1-phosphate uridyl transferase enzymatic activity in children who have been diagnosed with galactosemia and are on a therapeutic diet for their condition. Dried blood spot specimens are sent to the lab periodically during the first year to confirm the level of galactose-1-phosphate uridyl transferase activity.
Source: Regenstrief LOINC

Part Description

LP14026-6   Galactose 1 phosphate uridyl transferase
Galactose-1-phosphate uridylyltransferase (or GALT) is an enzyme (EC 2.7.7.12) responsible for converting ingested galactose to glucose. GALT catalyzes the second step of the Leloir pathway of galactose metabolism. The expression of GALT is controlled by the actions of the FOXO3 gene. Deficiency of GALT causes classic galactosemia and can be fatal in the newborn period if lactose is not removed from the diet. Symptoms include ovarian failure, cataracts, and neurologic deficits. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Galactose-1-phosphate uridylyltransferase

Fully-Specified Name

Component
Galactose 1 phosphate uridyl transferase^post therapeutic diet
Property
CCnc
Time
Pt
System
Bld.dot
Scale
Qn
Method

Additional Names

Short Name
Gal1PUT p diet DBS-cCnc
Display Name
Galactose 1 phosphate uridyl transferase post therapeutic diet (DBS) [Catalytic activity/Vol]
Consumer Name Alpha Get Info
Galactose 1 phosphate uridyl transferase after Therapeutic Diet, Dried blood spot

Basic Attributes

Class
CHAL
Type
Laboratory
First Released
Version 2.48
Last Updated
Version 2.61
Order vs. Observation
Both

Member of these Panels

LOINC Long Common Name
74874-9 Metabolic disorder therapy monitoring panel - DBS

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Galactosa 1 fosfato uridil transferasa^post dieta terapéutica:Concentración Catalítica:Punto temporal:gota de sangre (papel de filtro):Qn:
Synonyms: Cuantitativo
es-MX Spanish (Mexico) Galactosa 1 fosfato uridil transferasa^ dieta posterapéutica:Concentración catalítica:Punto temporal:DBS:Cuantitativo:
fr-FR French (France) Galactose-1-phosphate uridyl transférase après régime thérapeutique:Catalytique/Volume:Ponctuel:Sang buvard:Numérique:
it-IT Italian (Italy) Galattosio 1 fosfato uridil transferasi^dieta post terapia:CCnC:Pt:Sangue.su carta da filtro:Qn:
Synonyms: Concentrazione Catalitica Punto nel tempo (episodio) Sangue Spot sangue secco Test di provocazione
nl-NL Dutch (Netherlands) galactose-1-fosfaaturidyltransferase^na therapeutisch dieet:enzymatische activiteit/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR Portuguese (Brazil) Galactose 1 fosfato uridil transferase^após dieta terapêutica::Pt:SgPapel:Qn:
ru-RU Russian (Russian Federation) Галактозо 1 фосфат уридил трансфераза^после терапевтической диеты:КаталКонц:ТчкВрм:Кр.Сух.капл:Колич:
Synonyms: Галактозо-1-фосфат Каталитическая концентрация Количественный Кровь Кровь сухая капля Точка во времени;Момент Уридилтрансфераза
tr-TR Turkish (Turkey) Galaktoz 1 fosfat üridil transferaz^terapötik diyet snr:KtlKons:Zmlı:Kan.nokta:Kant:
zh-CN Chinese (China) 半乳糖-1-磷酸尿苷酰转移酶^在治疗性饮食之后:催化浓度:时间点:全血.斑点:定量型:
Synonyms: Ⅰ GAL-1-P;Gal1PO4;GAL-1-PO4 GAL1PTS;Gal1PUT;GAL-1-PUT;GALT;GPUT;半乳糖血症 I i Phos;Phos;Pi;PO4;总磷酸;无机磷酸;无机磷酸;磷酸根;磷酸盐;磷酸酯 XXX刺激 - 在...之后 之后于... 乳单糖;脑半乳糖;脑糖 催化浓度(单位体积);单位体积内酶的单位数 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 半乳糖刺激因素 半乳糖吸收 半乳糖吸收试验 半乳糖耐受 半乳糖耐受试验 半乳糖耐量 半乳糖耐量试验 半乳糖负荷 半乳糖负荷试验 可用数量表示的;定量性;数值型;数量型;连续数值型标尺 在...以后 在后 己糖-1-磷酸尿苷酰转移酶 时刻;随机;随意;瞬间 治疗 治疗性的 治疗性饮食之后;之后于治疗性饮食;在治疗性饮食（治疗膳食、治疗饮食、治疗用饮食、食饵疗法饲料、疗用饲粮）之后 治疗的 疗效饮食;食饵疗法饲料;治疗膳食;治疗饮食 血;血液 饮食;日常饮食;日常食物;规定饮食;食谱

Example Units

Unit Source
nmol/h/mL Example UCUM Units

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=75094-3