33288-2
Galactose 1 phosphate uridyl transferase [Presence] in DBS
Active
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.
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Source: Wikipedia, Galactose-1-phosphate uridylyltransferase
Fully-Specified Name
- Component
- Galactose 1 phosphate uridyl transferase
- Property
- PrThr
- Time
- Pt
- System
- Bld.dot
- Scale
- Ord
- Method
Additional Names
- Short Name
- Gal1PUT DBS Ql
- Display Name
- Galactose 1 phosphate uridyl transferase Ql (DBS)
- Consumer Name Alpha Get Info
- Galactose 1 phosphate uridyl transferase, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.09
- Last Updated
- Version 2.73
- Change Reason
- The PrThr property is used for LOINC terms whose results are reported using an ordered categorical scale, regardless of whether or not an internal threshold was used to make that determination. This change was approved by the Laboratory LOINC Committee in June 2016.
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 1408
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 54080-7 | Galactosemia newborn screening panel (SI units) |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 104188-8 | Mucopolysaccharidosis type II newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-AT | German (Austria) | Synonyms: Gal.-1PUT ql. /BT |
| es-AR | Spanish (Argentina) | galactosa 1 fosfato uridiltransferasa: |
| es-ES | Spanish (Spain) | Galactosa 1 fosfato uridil transferasa: |
| es-MX | Spanish (Mexico) | Galactosa 1 fosfato uridil transferasa: |
| et-EE | Estonian (Estonia) | Galaktoos-1-fosfaaturidüüli transferaas: Synonyms: Järgarvuline Juhuslik Veri |
| fr-CA | French (Canada) | Galactose 1-phosphate uridyl transférase: |
| fr-FR | French (France) | Galactose-1-phosphate uridyl transférase: |
| fr-BE | French (Belgium) | Galactose 1-phosphate uridyl transférase: |
| it-IT | Italian (Italy) | Galattosio 1 fosfato uridil transferasi: Synonyms: Chimica Presenza o Soglia Punto nel tempo (episodio) Sangue Spot sangue secco |
| ko-KR | Korean (Korea, Republic Of) | 갈락토스 1 인산염 우리딜 전이효소: |
| nl-NL | Dutch (Netherlands) | galactose-1-fosfaaturidyltransferase: |
| pt-BR | Portuguese (Brazil) | Galactose 1 Fosfato uridil transferase: Synonyms: Hexose-1-phosphate uridyltransferase; |
| ru-RU | Russian (Russian Federation) | Галактозо 1 фосфат уридил трансфераза: Synonyms: Галактозо-1-фосфат Кровь Кровь сухая капля Порядковый Точка во времени; |
| tr-TR | Turkish (Turkey) | Galaktoz 1 fosfat üridil transferaz: Synonyms: Mevcut |
| zh-CN | Chinese (China) | 半乳糖-1-磷酸尿苷酰转移酶: Synonyms: Ⅰ GAL-1-P; |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=33288-2
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