High resolution melting analysis of the MMAB gene in cblB patients and in those with undiagnosed methylmalonic aciduria

Clinical, phenotypic and genetic landscape of case reports with genetically proven inherited disorders of vitamin B12 metabolism: A meta-analysis

“…One-hundred and sixty-three publications were eligible for the systematic review and reported individual-level case reports on 824 patients with a genetically proven inherited disorder of vitamin B 12 metabolism. 1 , 2 , 3 , 4 , 5 , 6 , 7 , 8 , 9 , 10 , 11 , 12 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 37 , 38 , 39 , 40 , 41 , 42 , 43 , 44 , 45 , 46 , 47 , 48 , 49 , 50 , 51 , 52 , 53 , 54 , 55 , 56 , 57 , 58 , 59 , 60 , 61 , 62 , 63 , 64 , 65 , 66 , 67 …”

“… This work used data extracted in ref. 1 , 2 , 3 , 4 , 5 , 6 , 7 , 8 , 9 , 10 , 11 , 12 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 37 , 38 , 39 , 40 , 41 , 42 , 43 , 44 , 45 , 46 , 47 , 48 , 49 , 50 , 51 , 52 , 53 , 54 , 55 , 56 , 57 , 58 , 59 , 60 , 61 , 62 , 63 , 64 , 65 ...…”

Identification of Novel Mutations in the MMAA and MUT Genes among Methylmalonic Aciduria Families

“…This mutation has formerly been reported in a white 14-year-old male patient with undefined clinical presentations, which has been predicted to affect enzyme activity through disrupting active site of protein and disabling its interaction with ATP in spite of normal enzyme production [ 11 ] . Furthermore, it has been found in two Canadian cblB type patients in both heterozygote and homozygote status [ 13 ] . While the c.557G>A mutation has been assigned as uncertain significance in ClinVar website, its replication in our patient with severe disease manifestations may clinically classify it as a definite pathogenic variant.…”

Identifying and predicting the pathogenic effects of a novel variant inducing severe early onset MMA: a bioinformatics approach

“…Methylmalonic acidemia (MMA) is a rare metabolic disorder with an incidence rate of less than 1:100,000 in North America, Europe, and Asia–Pacific regions, however, the rate is higher in the Middle East, North Africa, and Japan [ 1 ]. MMA results from functional defects in methylmalonyl-CoA mutase (MCM, EC 5.4.99.2) [ 2 ], a mitochondrial enzyme involved in the catabolism of branched-chain amino acids, odd-chain fatty acids, and cholesterol. AdoCbl, produced from cob(I)alamin by ATP:Cobalamin adenosyltransferase (ATR), encoded by MMAB gene [ 3 , 4 ], is directly transferred to the mut complementation group (MCM) to play its catalytic role.…”