"Methylmalonic Acid" - Books

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acid in Sus scrofa (2)All 2 Gene records

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Select item 14589841.

GeneReviews® [Internet].

Adam MP, Bick S, Mirzaa GM, et al., editors.

Seattle (WA): University of Washington, Seattle; 1993-2026.

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Select item 44036682.

StatPearls [Internet].

Treasure Island (FL): StatPearls Publishing; 2026 Jan-.

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Select item 18813823.

Basic Neurochemistry: Molecular, Cellular and Medical Aspects. 6th edition.

Siegel GJ, Agranoff BW, Albers RW, et al., editors.

Philadelphia: Lippincott-Raven; 1999.

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Select item 29911044.

Dietary Reference Intakes for Thiamin, Riboflavin, Niacin, Vitamin B6, Folate, Vitamin B12, Pantothenic Acid, Biotin, and Choline.

Institute of Medicine (US) Standing Committee on the Scientific Evaluation of Dietary Reference Intakes and its Panel on Folate, Other B Vitamins, and Choline.

Washington (DC): National Academies Press (US); 1998.

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Select item 56749925.

Screening for vitamin B12 deficiency and other target diseases (homocystinuria, propionic acidaemia and methylmalonic aciduria) in extended newborn screening (ENS): IQWiG Reports – Commission No. S22-02 [Internet].

Institute for Quality and Efficiency in Health Care (IQWiG).

Cologne (Germany): Institute for Quality and Efficiency in Health Care (IQWiG); 2024 Aug 22.

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Select item 56175246.

Evidence review for diagnostic tests: Vitamin B12 deficiency in over 16s: diagnosis and management: Evidence review C.

London: National Institute for Health and Care Excellence (NICE); 2024 Mar. (NICE Guideline, No. 239.)

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Select item 56151067.

Evidence review for vitamin B12 replacement: Vitamin B12 deficiency in over 16s: diagnosis and management: Evidence review E.

London: National Institute for Health and Care Excellence (NICE); 2024 Mar. (NICE Guideline, No. 239.)

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Select item 46066028.

Examining Special Nutritional Requirements in Disease States: Proceedings of a Workshop.

National Academies of Sciences, Engineering, and Medicine; Health and Medicine Division; Food and Nutrition Board.

Washington (DC): National Academies Press (US); 2018 Jun 29.

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Select item 56171169.

Vitamin B12 deficiency in over 16s: diagnosis and management.

London: National Institute for Health and Care Excellence (NICE); 2024 Mar 6. (NICE Clinical Guidelines, No. 239.)

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Select item 265918210.

Database of Abstracts of Reviews of Effects (DARE): Quality-assessed Reviews [Internet].

York (UK): Centre for Reviews and Dissemination (UK); 1995-.

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Select item 328360811.

Nutrition During Lactation.

Institute of Medicine (US) Committee on Nutritional Status During Pregnancy and Lactation.

Washington (DC): National Academies Press (US); 1991.

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Select item 333123612.

Folate Augmentation of Treatment – Evaluation for Depression (FolATED): randomised trial and economic evaluation.

Bedson E, Bell D, Carr D, et al.; The FolATED trialists namely (in alphabetical order).

Southampton (UK): NIHR Journals Library; 2014 Jul. (Health Technology Assessment, No. 18.48.)

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Select item 557058413.

Nutrient Requirements of Dairy Cattle: Eighth Revised Edition.

National Academies of Sciences, Engineering, and Medicine; Division on Earth and Life Studies; Board on Agriculture and Natural Resources; Committee on Nutrient Requirements of Dairy Cattle.

Washington (DC): National Academies Press (US); 2021 Aug 30.

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Select item 561486614.

Evidence review for follow up: Vitamin B12 deficiency in over 16s: diagnosis and management: Evidence review F.

London: National Institute for Health and Care Excellence (NICE); 2024 Mar. (NICE Guideline, No. 239.)

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Select item 561798615.

Evidence reviews for risk factors and symptoms and signs for vitamin B12 deficiency: Vitamin B12 deficiency in over 16s: diagnosis and management: Evidence review B.

London: National Institute for Health and Care Excellence (NICE); 2024 Mar. (NICE Guideline, No. 239.)

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Select item 561422616.

Evidence review for tests for identifying cause: Vitamin B12 deficiency in over 16s: diagnosis and management: Evidence review D.

London: National Institute for Health and Care Excellence (NICE); 2024 Mar. (NICE Guideline, No. 239.)

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Select item 532396217.

Diagnosis and Treatment of Painful Diabetic Peripheral Neuropathy.

Pop-Busui R, Ang L, Boulton AJM, et al.

Arlington (VA): American Diabetes Association; 2022 Feb.

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Select item 530958218.

The Duration, Frequency, and Volume of Exclusive Human Milk and/or Infant Formula Consumption and Nutrient Status: A Systematic Review [Internet].

Dewey K, Bazzano L, Davis T, et al.

Alexandria (VA): USDA Nutrition Evidence Systematic Review; 2020 Jul.

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Select item 555341219.

Triheptanoin (Dojolvi): CADTH Reimbursement Review: Therapeutic area: Long-chain fatty acid oxidation disorders [Internet].

Ottawa (ON): Canadian Agency for Drugs and Technologies in Health; 2022 Apr.

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Select item 557542620.

Toxicological Profile for Ethylene Glycol.

Atlanta (GA): Agency for Toxic Substances and Disease Registry (US); 2010 Nov.

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Supplemental Content

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Figure 2.

An algorithm of conditions to be considered in the differential diagnosis of elevated serum or urine methylmalonic acid detected either during the follow up of an increased propionylcarnitine (C3) on newborn screening or following a positive urine organic acid screen in a symptomatic individual. The algorithm includes disorders that can present after the newborn period.
AC = acylcarnitine profile; CBC = complete blood count; Cbl = cobalamin; MMA = methylmalonic acid; Mut = mutase; OA = organic acids; PA = propionic acid; TC-II = transcobalamin II
Footnotes:
1. Succinate ligase deficiency (caused by biallelic pathogenic variants in SUCLA2 or SUCLG1) presents with lactic acidosis; excess 2-methylcitric, 3-hydroxyproprionic acid, and 3-hydroxyisovaleric acid in the urine; and excess C3-propionylcarnitine and C4-dicarboxylic carnitine (C4DC) in the blood and/or urine.
2. CMAMMA presents with normal propionylcarnitine (C3) in the plasma acylcarnitine profile and elevated methylmalonic and malonic acid in the plasma or urine. CMAMMA can be caused by biallelic pathogenic variants in ACSF3 or ZBTB11.
3. Methylmalonyl-semialdehyde-dehydrogenase deficiency (MMASDH) and other ill-defined syndromes should be considered (see Differential Diagnosis).
4. B₁₂ deficiency syndromes include intrinsic factor deficiency, Imerslund-Gräsbeck syndrome, and others. cblF and cblJ can have low serum B₁₂ concentration due to abnormal gastrointestinal absorption.
5. In rare instances metabolites can be normal in affected individuals.

Isolated Methylmalonic Acidemia.

Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025.
Figure 2.

Testing algorithm to confirm the diagnosis of a disorder of intracellular cobalamin metabolism in a proband
Footnotes:
1. While diagnostic testing is being performed, contact genetics/metabolic team and initiate treatment immediately.
2. The following results on NBS could be due to a cobalamin disorder: ↑C3, ↑C3/C2, ↓Met.
3. The following biochemical testing should be performed: plasma total homocysteine, serum methylmalonic acid, plasma amino acids, plasma acylcarnitine profile, serum vitamin B₁₂, urine organic acids. B₁₂ deficiency must be ruled out; in babies positive on newborn screening, maternal serum vitamin B₁₂ levels should be measured to rule out maternal B₁₂ deficiency. Note: Individuals with cblF and cblJ can have B₁₂ deficiency as part of their condition. In rare cases, metabolites can normalize with vitamin B₁₂ therapy; molecular genetic testing should be used for diagnosis.
4. Methylmalonic acidemia
5. Homocystinuria
6. Variants in PRDX1 can be seen in individuals with only one MMACHC pathogenic variant [Guéant et al 2018].
7. Multigene panel should include ABCD4, HCFC1, LMBRD1, MMADHC, THAP11, and ZNF143.

Disorders of Intracellular Cobalamin Metabolism.

Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025.
Figure 1.

Major pathway of the conversion of propionyl-CoA into succinyl-CoA. The biotin-dependent enzyme propionyl-CoA carboxylase converts propionyl-CoA into D-methylmalonyl-CoA, which is then racemized into L-methylmalonyl-CoA and isomerized into succinyl-CoA, a Krebs cycle intermediate. The L-methylmalonyl-CoA mutase reaction requires 5'-deoxyadenosylcobalamin, an activated form of vitamin B₁₂. The pathway of cellular processing of cobalamin (reduction from Cbl⁺³ to Cbl⁺²) and subsequently formation of adenosyl- (AdoCbl) and methylcobalamin (MeCbl) is depicted. Adenosyl-cobalamin is the cofactor of the methylmalonyl-CoA mutase reaction; methylcobalamin is the cofactor of the methionine synthase reaction.
The color-coded boxes around the cobalamin-processing enzymes indicate their role in causing: (1) methylmalonyl-CoA mutase or isolated AdoCbl deficiency and associated increase in serum methylmalonic acid [sMMA] (blue); (2) isolated MeCbl deficiency and hyperhomocysteinemia (green); (3) both cofactor deficiencies causing elevations in MMA and homocysteine (purple). Note: The light blue striped boxes indicate the enzymes (and the genes encoding them) that are deficient in different disorders in which methylmalonic acidemia occurs: epimerase deficiency (MCEE) and succinate-CoA ligase deficiency (SUCLA2/SUCLG1), combined malonic and methylmalonic acidemia (ACSF3, ZBTB11), and methylmalonyl-semialdehyde dehydrogenase deficiency (ALDH6A1). The light purple striped box indicates cblX deficiency (HCFC1), the only X-linked disorder in this pathway and rare transcription factors (ZNF143, THAP11) or neighboring genes (PRDX1) associated with cblC deficiency or epi-cblC. See Disorders of Intracellular Cobalamin Metabolism.
MMA = methylmalonic acid; Cbl = cobalamin; Cbl⁺³ = oxidized cobalamin, Cbl⁺² = reduced cobalamin; AdoCbl = 5'-deoxyadenosylcobalamin; MeCbl = methylcobalamin; TC = transcobalamin; TCblR = transcobalamin receptor.
The genes (and the enzymatic subtypes) associated with isolated methylmalonic acidemia included in this GeneReview are:
MMUT (mut⁰, mut^–)
MMAA (cblA)
MMAB (cblB)
MMADHC (cblD-MMA)
MCEE
Isolated methylmalonic acidemia caused by mutation of SUCLA2 and SUCLG1 is discussed in SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria and SUCLG1-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria, respectively.

Isolated Methylmalonic Acidemia.

Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025.