LP172773-6
Glycine CSF/Glycine plas
Active
Description
Individuals with elevated CSF glycine concentration along with an increased CSF-to-plasma glycine ratio are suspected of having glycine encephalopathy,also known as nonketotic hyperglycinemia (NKH). NKH is an autosomal recessive condition of glycine metabolism in which large quantities of glycine accumulate in all body tissues, including the brain. Several ofrms of the disease existing, varying severity of symptoms and time of onset. Most cases present in the neonatal period and are usually severe, manifesting in the first hours to days of life with progressive lethargy, hypotonia, and myoclonic jerks leading to apnea and often death. When presenting in infancy, 50% of cases are mild and the other half are severe. Patients present with hypotonia, developmental delay, and seizures. The remainder of cases (very few) are atypical and range from milder disease, with onset from late infancy to adulthood, to rapidly progressing and severe disease with late onset. Source: Regenstrief LOINC, PMID: 20301531
Basic Part Properties
- Part Name
- Glycine CSF/Glycine plas
- Part Display Name
- Glycine CSF/Glycine plas
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2013-04-01
- Construct for LOINC Short Name
- Glycine CSF:Pl
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| fr-FR | French (France) | Glycine LCR/plasma |
LOINC Copyright
Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://