LP145980-1
GALT gene.p.Gln188Arg
Active
Description
The GALT gene is located on chromosome 9p13.3 and encodes galactose-1-phosphate uridyl transferase, an enzyme that plays a key role in galactose metabolism. GALT mutations are associated with decreased or absent enzymatic activity, which results in the disease galactosemia. Three common mutations are p.Gln188Arg, p.Lys285Asn, and p.Ser135Leu. Classic galactosemia presents in the newborn period with vomiting, jaundice, hypoglycemia, hepatosplenomegaly, hypotonia and sepsis. If not treated immediately by removing lactose from the diet, the disease can be associated with severe disability or death. [OMIM: 230400] Source: Regenstrief LOINC, OMIM: 230400
Basic Part Properties
- Part Display Name
- GALT gene p.Gln188Arg
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2012-02-24
- Construct for LOINC Short Name
- GALT p.Q188R
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=LP145980-1
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | GALT 基因.p.Q188R |
| es-ES | Spanish (Spain) | Gen GALT .p.Q188R |
| it-IT | Italian (Italy) | GALT, gene.p.Gln188Arg Synonyms: Gene GALT p.Gln188Arg |
| tr-TR | Turkish (Turkey) | GALT geni.p.Q188R |
| ru-RU | Russian (Russian Federation) | GALT ген.p.Q188R |
| nl-NL | Dutch (Netherlands) | GALT-gen.p.Q188R Synonyms: GALT gen.p.Q188R |
LOINC Copyright
Copyright © 2024 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright