| Metabolite Marker | Approved Uses | Disease Associations |
|---|---|---|
| Asymmetric Dimethylarginine (ADMA) | Likelihood of future coronary events, especially in patients with renal failure. | Chronic heart failure, chronic kidney disease, chronic renal failure, coronary artery ectasia, increased risk for future cardiac events, insulin resistance, metabolic syndrome, mortality prediction, pulmonary arterial hypertension, stroke, vascular endothelial impairment, waist size |
| Aldosterone | Measured with Renin and cortisol to diagnose primary hyperaldosteronism (Conn syndrome), Secondary hyperaldosteronism and Adrenal insufficiency (Addison's disease) which causes changes blood pressure. | Chronic kidney disease, cardiovascular disease, microalbuminuria, vascular disease, mortality prediction |
| Aminoadipic acid | Tested in amino acid test aid in evaluation of endocrine disorders, liver diseases, muscle diseases, neoplastic diseases, neurological disorders, nutritional disturbances, renal failure, and burns. | Diabetes, oxidative stress |
| Beta-Hydroxybutyrate | Monitoring therapy for diabetic ketoacidosis Investigating the differential diagnosis of any patient presenting to the emergency room with hypoglycemia, acidosis, suspected alcohol ingestion, or an unexplained increase in the anion gap In pediatric patients, the presence or absence of ketonemia/uria is an essential component in the differential diagnosis of inborn errors of metabolism Serum beta-hydroxybutyrate is a key parameter monitored during controlled 24-hour fasts |
Downs syndrome, diabetes mellitus, diabetic ketoacidosis, ketosis, vitamin B12 deficiency, Reye syndrome, pulmonary infections, viral gastroenteritis, von Gierke disease, hyperthyroidism, pregnancy, heat stroke, ethanol consumption/alcoholism, malnutrition, high fat diet, pyruvate dehydrogenase deficiency, respiratory chain defects, propionic acidemia, methylmalonic acidemia, multiple carboxylase deficiency, 3-methylcrotonyl-CoA carboxylase deficiency, glyceroluria, MSUD, glutaric aciduria type I, isovaleric acidemia, MAD deficiency, beta-ketothiolase deficiency, 2-ketoadipic academia, mitochondrial SCHAD, fatty acid oxidation deficiency |
| Betaine | Cardiovascular disease, colorectal adenoma, CVD/atherosclerosis, pre-eclampsia | |
| Billirubin | bilirubin is measured to diagnose and/or monitor liver diseases, such as cirrhosis, hepatitis, or gallstones. It is also used to evaluate people with sickle cell disease or other causes of hemolytic anemia. In newborns with jaundice, bilirubin is mea |
Billiary stricture, Crohn's disease, hemolytic anemia, liver disease, pancreatic cancer, preeclampsia, increased risk for coronary artery disease, atherosclerosis, heart attack, cardiac syndrome X, appendicitis |
| Carnosine | tested in amino acid test aid in evaluation of endocrine disorders, liver diseases, muscle diseases, neoplastic diseases, neurological disorders, nutritional disturbances, renal failure, and burns | Alzheimer's disease, diabetic nephropathy, diabetic progression, diabetic retinopathy |
| Choline | prognosis in patients with chest discomfort | Breast cancer, breast cancer recurrence, breast cancer risk, cardiovascular disease, celiac disease, colorectal cancer, prostate cancer, CVD/atherosclerosis, neural tube defects, fatty liver disease, hypertension, celiac disease, renal carcinoma |
| Creatinine | calculate the estimated glomerular filtration rate (eGFR) used with a variety of other urine tests as a correction factor part of a group of tests used to evaluate the function of the body's major organs |
Atherosclerosis, autism, celiac disease, chronic obstructive pulmonary disease, glycerol kinase deficiency, multiple sclerosis, pancreatic cancer, stroke |
| Estradiol | measured with estrogen and estrone to investigate abnormal menstrual cycles, fetal-placental status during early stages of pregnancy and to evaluate feminization. | increased risk for breast cancer, hip fracture, dementia, fatty liver disease, peripheral arterial disease |
| Folate | Evaluate nutritional status Diagnose one cause of anemia or neuropathy | Acute coronary events, late life depression, ischaemic stroke, stroke, neural tube defects, peripheral vascular disease, Alzheimer’s, risk of cataract development |
| Formate | Asthma, breast cancer, chronic obstructive pulmonary disease, stroke, breast cancer recurrence, stroke, lupus, lung cancer | |
| Glucose | Screen for, diagnose, and monitor high blood glucose (hyperglycemia) or low blood glucose (hypoglycemia), diabetes, and pre-diabetes | Asthma, breast cancer, celiac disease, colorectal cancer, diabetes, lung cancer, hyper/hypoglycemia pancreatic cancer, Huntington’s disease, chronic liver failure, various cancers, fatty liver disease |
| Glutamate | Evaluating patients with possible inborn errors of metabolism. | Breast cancer, celiac disease, depression, breast cancer recurrence, outcome from stroke/ischemia, autism severity, risk for type I diabetes, diabetes, schizophrenia, psychoses, ulcerative colitis, pancreatic cancer, survival from trauma, ALS |
| Glutamine | Evaluating patients with possible inborn errors of metabolism. | Celiac disease, depression, stroke, ulcerative colitis, diabetes, lupus, lung cancer, fatty liver disease, ALS, stroke, pancreatic cancer |
| Glycerol | Glycerol kinase deficiency, preeclampsia, lupus, trauma, liver cancer, Uremia, Glycerol kinase deficiency, fructose-1,6, phosphatase deficiency | |
| Homocysteine | Determine if folate-deficient or B12-deficient Diagnose homocystinurina Identify increased risk of heart attack or stroke |
Chronic kidney disease, coronary artery ectasia, late life depression, microalbuminuria, stroke, vitiligo, CVD/atherosclerosis and ischemia, chronic kidney disease, hip fracture, late-life depression, Alzheimer’s disease, coronary artery disease mortality |
| HPHPA | Autism | |
| Indoxylsulfate | Presence in urine can indicate Hartnup disease, intestinal obstruction, gastric cancer, hypochlorhydria, biliary obstruction, and malabsorptive conditions such as sprue and blind-loop syndrome. |
Atherosclerosis, celiac disease, chronic cyclosporine nephrotoxicity, schizophrenia, autism, psychoses, depression, seizures, and in chronic fatigue syndrome |
| Lactate | Lack of oxygen (hypoxia) or other conditions that cause excess production or insufficient clearing of lactate from the blood Diagnosing and monitoring patients with lactic acidosis |
Asthma, celiac disease, colorectal cancer, esophageal cancer, lung cancer, pancreatic cancer, rheumatoid arthritis, reast cancer recurrence, critical illness mortality, burn mortality, neonatal morbidity, cancer metastatic risk, schizophrenia, colon cancer, trauma survival, stroke, renal carcinoma, infection, vitamin B deficiency, poor perfusion, or intestinal bacterial overgrowth, pyruvate dehydrogenase deficiency, glycogen storage diseases, disorders of fructose metabolism, severe trauma, short bowel syndrome, apnea, septicemia, seizures, cardiac insufficiency, diabetic ketoacidosis, Reye syndrome, lactic acidosis, pyruvate dehydrogenase deficiency, respiratory chain defects, Krebs acid cycle defects, gluconeogenesis defects, MAD deficiency, VLCAD deficiency, glutaric aciduria type I, multiple carboxylse deficiency, methylmalonic acidemia, isovlaeric acidemia, propionyl acidemia, citrullinemia, glycerol kinase deficiency, HMG-CoA lyase deficiency, EMA aciduria |
| Leucine | evaluating patients with possible inborn errors of metabolism | Celiac disease, colorectal cancer, type II diabetes, esophageal cancer, pancreatic cancer, diabetes, schizophrenia, colon cancer, celiac disease, pancreatic cancer |
| Neopterin | Infections Autoimmune diseases: Rheumatoid Arthritis, Systemic Lupus, and Atopic Asthma Malignant diseases Psychiatric disorders Sleep-disordered breathing Children with Autism Spectrum Disorders |
Alzheimer's disease, atherosclerosis, breast cancer, colon carcinoma, Crohn's disease, dermatomyositis, hematological neoplasias, hepatocellular cancer, HIV infection, inflammatory bowel diseases, lung cancer, organ rejection after transplant, ovarian carcinoma, post-therapeutic tumor relapse, prostate cancer, rheumatoid arthritis, squamous cell carcinoma, ulcerative colitis, uterine cervix carcinoma, viral infection, Wegener's granulomatosis |
| Phenylalanine | Evaluating patients with possible inborn errors of metabolism. | Asthma, colorectal cancer, type II diabetes, maple syrup urine disease, phenylketonuria, diabetes, tardive dyskinesia, schizophrenia, colon cancer, celiac disease, lupus, kidney cancer, HIV infection, renal cell carcinoma, liver cancer |
| Pyruvate | Evaluating patients with possible inborn errors of metabolism. | ALS, celiac disease, stroke, lupus, stomach cancer, lung cancer, liver failure, stroke, ALS, celiac disease, liver disease, infection, B vitamin deficiency, poor perfusion, or intestinal bacterial overgrowth, pyruvate dehydrogenase deficiency, glycogen storage diseases, disorders of fructose metabolism, severe trauma, Short bowel syndrome, apnea, septicemia, seizures, cardiac insufficiency, diabetic ketoacidosis Reye syndrome, lactic acidosis, pyruvate dehydrogenase deficiency, respiratory chain defects, Krebs acid cycle defects, gluconeogenesis defects, MAD deficiency, VLCAD deficiency, glutaric aciduria type I, multiple carboxylse deficiency, methylmalonic acidemia, isovlaeric academia, propionyl academia, citrullinemia, glycerol kinase deficiency, HMG-CoA lyase deficiency, EMA aciduria |
| Taurine | Evaluating patients with possible inborn errors of metabolism. | Breast cancer, colorectal cancer, depression, preeclampsia, breast cancer, outcome from stroke/ischemia, risk of cataract development, reduced risk of obesity, breast cancer outcome, colon cancer, colitis, fatty liver disease |
| Testosterone | In males: erectile dysfunction, infertility, premature or delayed puberty In females: virilization, inability to get pregnant, marker for polycystic ovary syndrome (PCOS) |
peripheral arterial disease, breast cancer, cardiovascular disease, liver cancer, Alzheimer’s disease, hip fracture, anemia, atherosclerosis |
| TMAO | Pancreatic cancer, CVD/atherosclerosis | |
| Tyrosine | Evaluating patients with possible inborn errors of metabolism. | Asthma, type II diabetes, esophageal cancer, maple syrup urine disease, diabetes, breast cancer recurrence, schizophrenia, celiac disease, lupus, leukemia, liver cancer |
| Uric Acid | Diagnose/monitor gout Monitor uric acid levels when undergoing chemotherapy or radiation treatment Diagnose the cause of kidney stones |
Type II diabetes, microalbuminuria, multiple sclerosis, Parkinson's disease, reduced risk of Parkinson’s disease, cancer mortality, brain ischemia, cardiovascular disease, coronary heart disease, hypertension |
| Vitamin D | Vitamin D deficiency | All-cause mortality, asthma, cardiovascular mortality, non-Alzheimer dementias, preeclampsia, diabetes risk, stroke, sudden cardiac death, knee osteoarthritis, rheumatoid arthritis, Parkinson’s, Alzheimer’s |