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. 2021 Jun 9;11(6):370. doi: 10.3390/metabo11060370

Table 1.

Summary of documented examples of pathologies where isotopes at natural abundance could be used for potential diagnostics. Aa, amino acid; ND, not determined. The term “metabolic mechanism” refers to the major pathways explaining the change in isotope abundance.

Disease Metabolic Mechanism Isotopic Marker Matrix Ref.
Nervous anorexia, nutritional stress Aa metabolism 13C, 15N Hair [10,11]
Syphilis Aa metabolism 13C, 15N Collagen [12]
Chronic malnutrition and potential growth retardation (stunted children) Aa metabolism 13C, 15N Hair [13]
Patients with metabolic syndrome Glycaemia Aa metabolism 13C, 15N Hair [14]
Diabetic patients Sugar metabolism 13C, 15N Hair [15,16,17,18]
Cirrhotic patients Aa metabolism 13C, 15N Hair, bulk protein [19]
Breast cancer Urea cycle, glycolysis, lipid synthesis, anaplerosis 13C, 15N Tissue biopsies cultured cells [20,21]
Oral squamous cell carcinomas ND 13C, 15N Tissue biopsies [22]
Ganglioneuroma (benign tumours), neuroblastoma and nephroblastoma Wilm’s tumours Aa metabolism 13C, 15N Tissue biopsies [23,24]
Rhabdomyosarcoma ND 13C, 15N Tissue biopsies [25]
Adrenal gland cancers Aa metabolism Glycolysis 13C, 15N Serum Unpublished data
Hepatocarcinoma Glutathione metabolism, 34S Serum and erythrocytes [26]
Wilson disease Cu metabolism 65Cu Serum [27]
Menkes disease Cu and Aa metabolism 15N Hair Unpublished data
Ovarian cancer Cu metabolism 65Cu Serum [28]
Homeostasis alterations after bariatric surgery Zn homeostasis 66Zn Serum and Whole blood [29]
Hematological malignancy Metal homeostasis 65Cu, 66Zn serum [30]
Anaemia Fe deficiency 56Fe Whole blood [27]
Multiple myeloma Bone formation (apatite deposition) 44Ca Serum and urine [31]
Chronic kidney disease or diabetes Bone formation (apatite deposition) 44Ca Serum [32]
Anaemia in skeleton fragments Respiratory biochemistry 18O Bone and enamel apatite [33]
Osteopenia and osteoporosis in female skeleton Urea excretion and/or renal function 15N Bone collagen [34]
Cealiac disease in skeleton Aa metabolism 13C, 15N Bone collagen [35]