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Hypoxanthine
2D structure for Hypoxanthine
Chemical Name	3,7-dihydropurin-6-one
Chemical Formula	C5H4N4O
CAS Number	68-94-0
Chemical Information	HMDB00157
Biochemical Taxonomy	Purines and Purine Derivatives
Functional Taxonomy	Not Available
Nutritional Taxonomy	Not Available
Metabolic Pathways	Nicotinate and Nicotinamide Metabolism Purine Metabolism
Biofluid Location	Blood Cellular Cytoplasm Cerebrospinal Fluid (CSF) Urine
Tissue Location	Epidermis Erythrocyte Fibroblasts Intestine Muscle Placenta Platelet Skeletal Muscle Spleen Testes Adipose Tissue
Normal Biofluid Concentrations	Blood: 0.38 (0.20-0.56) uM Blood: 1.0 +/- 0.9 uM Blood: 4.87 +/- 0.36 umol/L Blood: 5.6 (3.1-7.1) uM Cellular Cytoplasm: 2 uM Cerebrospinal Fluid (CSF): 5.94 (5.20-6.68) uM Urine: 4.67 (2.8-6.38) umol/mmol creatinine
Normal Tissue Concentrations	Not Available
Diseases / Conditions Related to Nutrition	Degenerative disc disease Lung Cancer Non-compensated hydrocephalics (pre-shunt implanted) Patients with Canavan disease Patients with Lesch-Nyhan syndrome Self-compensated hydrocephalics
Other (Monogenic Disorders)	Molybdenum cofactor deficiency OMIM: 252150
Abnormal Biofluid Concentrations	Blood (Patients with Canavan disease): 5.56 +/- 1.74 umol/L Blood (Patients with Lesch-Nyhan syndrome): 5.7 +/- 0.4 umol/L Cerebrospinal Fluid (CSF) (Degenerative disc disease): 2.50 (2.00-3.00) uM Cerebrospinal Fluid (CSF) (Non-compensated hydrocephalics (pre-shunt implanted)): 9.91 (8.01-11.8) uM Cerebrospinal Fluid (CSF) (Self-compensated hydrocephalics): 5.71 (3.99-7.43) uM Urine (Lung Cancer): 6.8 +/- 4.8 umol/mmol creatinine
Abnormal Tissue Concentrations	Not Available
Physiological Processes	Not Available

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Contents 1 Introduction 2 Biological Function 3 Catabolism 4 Diseases / Conditions Related to Nutrition 5 Other (Monogenic) Disorders 6 Nutritional Information 7 Drivers for biological variation 8 Vulnerable groups 9 Other resources 10 Links

Introduction

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A naturally occurring purine derivative and a reaction intermediate in the metabolism of adenosine and in the formation of nucleic acids by the salvage pathway. Hypoxanthine is also a spontaneous deamination product of adenine. Lesch-Nyhan disease is caused by deficiency of the purine salvage enzyme hypoxanthine-guanine phosphoribosyltransferase. (OMIN 308000).

Biological Function

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Catabolism

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Hypoxanthine is a purine base generated from degradation of adenine and guanine nucleotides. Xanthine can be generated from hypoxanthine by oxidation.

Diseases / Conditions Related to Nutrition

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• Degenerative disc disease
• Lung Cancer
• Non-compensated hydrocephalics (pre-shunt implanted)
• Patients with Canavan disease
• Patients with Lesch-Nyhan syndrome
• Self-compensated hydrocephalics

Other (Monogenic) Disorders

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• Molybdenum cofactor deficiency OMIM: 252150

Nutritional Information

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Drivers for biological variation

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Shaham O et al. observed decreased concentrations of hypoxanthine and xanthine upon a glucose challenge test Pubmed. Their explanation was that the decrease in hypoxanthine and xanthine may be explained by a combination of attenuated release and accelerated uptake. Hypoxanthine taken up by tissues can support nucleotide biosynthesis through the purine salvage pathway and may also be indicative of a switch from catabolism to anabolism of nucleic acids, analogues to the simultaneous transitions in fat and protein metabolism.

Vulnerable groups

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Other resources

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Links

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