Methylmalonic aciduria and homocystinuria

Definition:

Methylmalonic aciduria and homocystinuria (MAHC) is caused by defects of intracellular cobalamin (vitamin B12) metabolism. Derivatives of cobalamin are essential cofactors for enzymes required in intermediary metabolism, and its defects lead to the accumulation of methylmalonic acid and/or homocysteine in blood and urine. Affected persons present with multisystem clinical abnormalities, including developmental, hematologic, neurologic, and metabolic findings.

References:

[1]. David Coelho, et al. Gene identification for the cblD defect of vitamin B12 metabolism. N Engl J Med. 2008 Apr 3;358(14):1454-64. [Content Brief]

[2]. David Coelho, et al. Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism. Nat Genet. 2012 Oct;44(10):1152-5. [Content Brief]

[3]. David Watkins, et al. Inborn errors of cobalamin absorption and metabolism. Am J Med Genet C Semin Med Genet. 2011 Feb 15;157C(1):33-44. [Content Brief]

[4]. Jean-Louis Guéant, et al. APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients. Nat Commun. 2018 Jan 4;9(1):67. [Content Brief]

[5]. Majid Alfadhel, et al. Eighteen-year follow-up of a patient with cobalamin F disease (cblF): report and review. Am J Med Genet A. 2011 Oct;155A(10):2571-7. [Content Brief]

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