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Methylmalonic acid
2D structure for Methylmalonic acid
Chemical Name	2-methylpropanedioic acid
Chemical Formula	C4H6O4
CAS Number	516-05-2
Chemical Information	HMDB00202
Biochemical Taxonomy	Dicarboxylic Acids
Functional Taxonomy	Not Available
Nutritional Taxonomy	Not Available
Metabolic Pathways	Bile Acid Biosynthesis Butanoate Metabolism Fatty Acid Metabolism Glycerolipid Metabolism Glycolysis Lysine Degradation Nicotinate and Nicotinamide Metabolism Propanoate Metabolism Pyruvate Metabolism Valine, Leucine and Isoleucine Degradation Vitamin B6 Metabolism
Biofluid Location	Blood Cerebrospinal Fluid (CSF) Urine
Tissue Location	Liver Kidney
Normal Biofluid Concentrations	Blood: 0.14 (0.04-0.26) uM Blood: 0.200 (0.00-0.400) uM Cerebrospinal Fluid (CSF): 0.32 +/- 0.11 uM Cerebrospinal Fluid (CSF): 0.51 +/- 0.13 uM Urine: 1.6 (0-3.60) umol/mmol creatinine Urine: 1.8 (0.00-3.6) umol/mmol creatinine Urine: 29.9 (0.1-78.9) umol/mmol creatinine Urine: 3.7 (1.1-21.6) umol/mmol creatinine Urine: 4.8 (1.6-24.9) umol/mmol creatinine Urine: 8.2 (1.5-30.8) umol/mmol creatinine Urine: 9.4 (0.1-79.4) umol/mmol creatinine
Normal Tissue Concentrations	Not Available
Diseases / Conditions Related to Nutrition	Alzheimer dementia Cobalamin deficiency
Other (Monogenic Disorders)	Homocystinuria-megaloblastic anemia due to defect in cobalamin metabolis m, OMIM: 236270 Methylcobalamin deficiency, CBLG type OMIM: 250940 Methylmalonic aciduria and homocystinuria, CBLC type OMIM: 277400 Methylmalonic aciduria and homocystinuria, CBLD type OMIM: 277410 Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency OMIM: 251000 Methylmalonic aciduria, CBLB type OMIM: 251110 Methylmalonic aciduria, cbla type OMIM: 251100 Methylmalonyl-coa epimerase deficiency OMIM: 251120
Abnormal Biofluid Concentrations	Blood (Alzheimer dementia): 0.480 +/- 0.062 uM Blood (Cobalamin deficiency): 22.0 (4.3-37.0) uM
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 malonic acid derivative which is a vital intermediate in the metabolism of fat and protein. Abnormalities in methylmalonic acid metabolism lead to methylmalonic aciduria. This metabolic disease is attributed to a block in the enzymatic conversion of methylmalonyl CoA to succinyl CoA.

Biological Function

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Catabolism

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Diseases / Conditions Related to Nutrition

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• Alzheimer dementia
• Cobalamin deficiency

Other (Monogenic) Disorders

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• Homocystinuria-megaloblastic anemia due to defect in cobalamin metabolis m, OMIM: 236270
• Methylcobalamin deficiency, CBLG type OMIM: 250940
• Methylmalonic aciduria and homocystinuria, CBLC type OMIM: 277400
• Methylmalonic aciduria and homocystinuria, CBLD type OMIM: 277410
• Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency OMIM: 251000
• Methylmalonic aciduria, CBLB type OMIM: 251110
• Methylmalonic aciduria, cbla type OMIM: 251100
• Methylmalonyl-coa epimerase deficiency OMIM: 251120

Nutritional Information

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Drivers for biological variation

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Vulnerable groups

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Other resources

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Links

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