Biomarker blood plasma specimen assessment type

General Details:

Name:
Biomarker blood plasma specimen assessment type
Steward:
NINDS
Definition:
Type of biomarker(s) assessed from blood serum/plasma samples.
Registration Status:
Qualified

Permissible Values:

Value Type:
Value List
Unit of Measure:
Ids:
Value Code Name Code Code System Code Description
Lactate Lactate Lactate
Pyruvate Pyruvate Pyruvate
lactate/pyruvate ratio lactate/pyruvate ratio lactate/pyruvate ratio
Leukocyte Coenzyme Q10 Leukocyte Coenzyme Q10 Leukocyte Coenzyme Q10
Amino acids(emphasis on alanine, alanine/lysine ratio, alanine/phenylalanine+lysine ratio, alanine/phenylalanine+lysine ratio, citrulline) Amino acids(emphasis on alanine, alanine/lysine ratio, alanine/phenylalanine+lysine ratio, alanine/phenylalanine+lysine ratio, citrulline) Amino acids(emphasis on alanine, alanine/lysine ratio, alanine/phenylalanine+lysine ratio, alanine/phenylalanine+lysine ratio, citrulline)
Carnitine levels Carnitine levels Carnitine levels
CPK CPK CPK
Creatine Creatine Creatine
Free glutathione (fGSH) Free glutathione (fGSH) Free glutathione (fGSH)
oxidized disulfide (GSSG) oxidized disulfide (GSSG) oxidized disulfide (GSSG)
fGSH/GSSG ratio fGSH/GSSG ratio fGSH/GSSG ratio
Plasma carbonyl content Plasma carbonyl content Plasma carbonyl content
Fibroblast growth factor 21 (fgf21) Fibroblast growth factor 21 (fgf21) Fibroblast growth factor 21 (fgf21)
Metabolic profiling Metabolic profiling Metabolic profiling
Hepatic enzymes (AST, ALT, GGT) Hepatic enzymes (AST, ALT, GGT) Hepatic enzymes (AST, ALT, GGT)
Ammonia (NH3) Ammonia (NH3) Ammonia (NH3)
Thymidine Thymidine Thymidine
Deoxyuridine Deoxyuridine Deoxyuridine

Designations:

Designation:
Biomarker blood plasma specimen assessment type
Tags:
Designation:
Which biomarker(s) were assessed from the specimen's blood (serum/plasma) sample?
Tags:
Question Text

Designations:

Definition:
Type of biomarker(s) assessed from blood serum/plasma samples.
Tags:

Reference Documents:

ID:
Title:
URI:
Provider Org:
Language Code:
Document:
"Suomalainen, A., Biomarkers For Mitochondrial Respiratory Chain Disorders. J Inherit Metab Dis, 2011. 34(2): P. 277-82. Haas, R.H., et al., Mitochondrial Disease: A Practical Approach for Primary Care Physicians. Pediatrics, 2007. 120(6): P. 1326-33. Mancuso, M., et al., Diagnostic Approach to Mitochondrial Disorders: The Need for a Reliable Biomarker. Curr Mol Med, 2009. 9(9): P. 1095-107. Davis, R.L., et al., Fibroblast Growth Factor 21 is a Sensitive Biomarker of Mitochondrial Disease. Neurology, 2013. 81(21): P. 1819-26. Atkuri, K.R., et al., Inherited Disorders Affecting Mitochondrial Function are Associated with Glutathione Deficiency and Hypocitrullinemia. Proc Natl Acad SCI U S A, 2009. 106(10): P. 3941-5. Longo, N., C. Amat Di San Filippo, and M. Pasquali, Disorders of Carnitine Transport and the Carnitine Cycle. Am J Med Genet C Semin Med Genet, 2006. 142C(2): P. 77-85. Shaham, O., et al., A Plasma Signature of Human Mitochondrial Disease Revealed Through Metabolic Profiling of Spent Media from Cultured Muscle Cells. Proc Natl Acad SCI U S A, 2010. 107(4): P. 1571-5. Frye, R.E., Et al., Redox Metabolism Abnormalities in Autistic Children Associated with Mitochondrial Disease. Transl Psychiatry, 2013. 3: P. E273. Ribas, V., C. Garcia-Ruiz, and J.C. Fernandez-Checa, Glutathione and Mitochondria. Front Pharmacol, 2014. 5: P. 151. Chau, M.D., et al., Fibroblast Growth Factor 21 Regulates Energy Metabolism by Activating the AMPK-SIRT1-PGC-1ALPHA Pathway. Proc Natl Acad SCI U S A, 2010. 107(28): P. 12553-8. Gavrilova, R. and R. Horvath, Fibroblast Growth Factor 21, a Biomarker for Mitochondrial Muscle Disease. Neurology, 2013. 81(21): P. 1808-9. Liang, C., K. Ahmad, and C.M. Sue, The Broadening Spectrum of Mitochondrial Disease: Shifts in the Diagnostic Paradigm. Biochim Biophys Acta, 2014. 1840(4): P. 1360-1367. Su, S.L., et al., FGF21 iN Ataxia Patients with Spinocerebellar Atrophy and Mitochondrial Disease. Clin Chim Acta, 2012. 414: P. 225-7. Suomalainen, A., Fibroblast Growth Factor 21: A Novel Biomarker for Human Muscle-Manifesting Mitochondrial Disease. Expert Opin Med Diagn, 2013. 7(4): P. 313-7. Suomalainen, A., et al., FGF-21 as a Biomarker for Muscle-Manifesting Respiratory Chain Deficiencies: A Diagnostic Study. Lancet Neurol, 2011. 10(9): P. 806-18. Turnbull, D., A New Biomarker for Mitochondrial Disease. Lancet Neurol, 2011. 10(9): P. 777-8. Tyynismaa, H., et al., Mitochondrial Myopathy Induces a Starvation-like Response. Hum Mol Genet, 2010. 19(20): P. 3948-58. Valentino, M.L., et al., Thymidine and Deoxyuridine Accumulate in Tissue of Patients with Mitochondial Neurogastrointestinal Encephalomyopathy (MNGIE). Febs Lett, 2007. 581(18): P. 3410-4. Lara, M.C., et al., Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE): Biochemical Features and Therapeutic Approaches. Biosci Rep, 2007. 27(1-3): P. 151-63."

Identifiers:

Source:
NLM
Id:
Q1NWQEqiSA
Version:
1.1
Source:
NINDS
Id:
C19551
Version:
1
Source:
BRICS Variable Name
Id:
BiomarkBloodPlasmaSpecAssesTyp
Version: