Noninvasive Metabolic Profiling for Painless Diagnosis of Human Diseases and Disorders

Figures & data

Figure 1.  General workflow for development of painless diagnostic methods using metabolic profiling.

Table 1.  Urinary metabolic profiling studies used for noninvasive diagnosis of different types of cancer.

Type of cancer	Analytical platform used	Ref.
Bladder cancer	LC–MS, GC–MS	[26–28]
Breast cancer	HPLC, LC–MS, GC–MS	[22,23]
Gastric cancer	GC–MS, NMR	[31,32]
Liver cancer	NMR, MS, LC–MS, GC–MS	[21]
Lung cancer	NMR, MS, LC–MS, GC–MS	[24,25]
Prostate cancer	LC–MS	[20]

Table 2.  Urinary metabolic profiling studies used for noninvasive diagnosis of metabolic disorders and in born errors of metabolism.

Diseases or disorders	Analytical platform used	Ref.
Cystinuria, maple syrup urine disease, adenylosuccinate lyase deficiency, galactosemia	LC–MS	[3]
Neonatal galactosuria	GC–MS	[35]
Nutritional rickets	LC–MS	[37]
Organic acidurias	GC–MS	[34]
Phenylketonuria	GC–MS	[39]
Prediabetic subtypes	GC–MS	[38]

Table 3.  Urinary metabolic profiling studies used for noninvasive diagnosis of miscellaneous diseases and disorders.

Diseases or disorders	Analytical platform used	Ref.
Depression associated with hepatitis B virus infection	NMR	[45]
Familial precocious puberty	GC–MS	[48]
Gestational hypertensive disorder especially preeclampsia	NMR	[41]
Hepatitis C virus infection	NMR	[44]
Immuno-rejection in kidney transplantation	MS	[42]
Inflammatory bowel diseases	NMR, MS, LC–MS, GC–MS	[43]
Interstitial and bacterial cystitis	NMR, MS	[50]
Rheumatoid arthritis, spondyloarthritis, systemic lupus erythematosus, osteoarthritis	NMR, MS	[49]
Urinary tract infection	NMR	[46,47]

Table 4.  Salivary metabolic profiling studies used for noninvasive diagnosis of different diseases and disorders.

Diseases or disorders	Analytical platform used	Ref.
Breast cancer	CE–MS	[60]
Neurodegenerative dementias (Alzheimer’s disease, frontotemporal lobe dementia, Lewy body disease)	CE–MS	[57]
Pancreatic cancer	CE–MS	[60]
Periodontal diseases like (gingivitis and periodontitis) in diabetic patients	GC–MS, LC–MS	[53]
Primary Sjogren’s syndrome	GC–MS, LC–MS	[55,56]
Squamous cell carcinoma and related precancerous lesions like oral lichen planus and oral leukoplakia	LC–MS, CE–MS	[58–59,61–62]
Type 2 diabetes mellitus	NMR, MS, LC–MS, GC–MS	[54]

Table 5.  Metabolic profiling studies using exhaled breath for noninvasive diagnosis of different diseases and disorders.

Diseases or disorders	Analytical platform used	Ref.
Acute respiratory distress syndrome	GC–MS	[68]
Asthma	NMR	[80–84]
Breast cancer	GC–MS	[85,86]
Chronic obstructive pulmonary disease	GC–DMS, NMR	[71,72]
Cystic fibrosis and related diabetes	IMS–TOF-MS, NMR	[87,88]
Hepatocellular carcinoma	GC–MS	[89]
Lung cancer	GC–MS	[79,90–94]
Pleural mesothelioma	GC–MS	[95]
Primary ciliary dyskinesia	NMR	[96]
Pulmonary Langerhans cell histiocytosis	NMR	[62]

GC–DMS: Gas-chromatography–differential mobility spectrometry; IMS–TOF-MS: Ion-mobility–time of flight-mass spectrometry.

Table 6.  Metabolic profiling studies using feces for noninvasive diagnosis of different diseases and disorders.

Diseases or disorders	Analytical platform used	Ref.
Irritable bowel syndrome and Inflammatory bowel diseases	GC–MS, NMR	[101,102]
Colorectal cancer	GC–MS, NMR	[103–105]
Type-2 diabetes mellitus	FT–ICR–MS, LC–MS	[106]

FT–ICR–MS: Fourier transform–Ion cyclotron resonance–Mass spectrometer.

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