Although metabolic acidosis from a variety of causes is very frequent in infancy, congenital acidosis appears to be extremely rare. Two unrelated cases of a new syndrome are now described with a congenital metabolic acidosis resulting from a block in the conversion of methylmalonic acid to succinic acid. The first had persistent mild acidosis with acute episodes of severe metabolic acidosis dur...

Accumulation of methylmalonic acid may provide an early clue to deficiency of cobalamin (vitamin B12) in tissue. Metabolic abnormalities involving precursors of methylmalonic acid are frequently observed in patients with hepatic diseases. To establish whether methylmalonic acid accumulates and thereby gives false-positive test results for cobalamin deficiency, we measured the concentration of m...

MMA: methylmalonic acid CASE REPORT We present a case of late-onset cobalamin C deficiency presenting with a unique shellac-like erosive desquamation and mental status changes that was dramatically responsive to treatment. We discuss cobalamin C deficiency and compare the cutaneous findings with other similar nutritional deficiency states. The brown shellac-like desquamation should prompt derma...

A 34-year-old Black woman had severe megaloblastic anemia in childhood. Initially, and over the years, she responded well to massive doses of parenteral cobalamin (Cbl) or oral folic acid. Metabolic reactions involving Cbl and folate enzymes were normal during both relapse and remission except for the absence of thymidylate synthetase in relapse. Amino acid analyses of urine and plasma showed n...

The rising incidence of diabetes and its negative impact on quality of life highlights the urgent need to develop biomarkers of early nerve damage. Measurement of total vitamin B12 has some limitations. We want to determine the levels of urinary methylmalonic acid and its relationships with serum vitamin B12 and polyneuropathy. The 176 Chinese patients with Type 2 diabetes mellitus were divided...

Methylmalonic acidemia (MMA) is widely considered as an autosomal recessive metabolic disorder that results in accumulation of high levels of methylmalonic acid and eventually brain damage. This study aims to investigate the effects of methylmalonic acid on neurons and analyze various gene expression profiles in rat cortical neurons treated with methylmalonic acid in order to understand the eff...

Aim: In this study, we evaluated the clinical and laboratory data of healthy children with vitamin B12 deficiency. The benefits methylmalonic acid (MMA) homocysteine levels difficulties encountered in diagnosing deficiency were pointed out. 
 Materials Methods: A total 70 whose serum cobalamin below 126.5 pg/ml included study. age, gender, B12, urine MMA, plasma homocysteine, white blood c...

Methylmalonic aciduria (MMA) is a disorder of organic acid metabolism resulting from a functional defect of methylmalonyl-CoA mutase (MCM). MMA is associated with significant morbidity and mortality, thus therapies are necessary to help improve quality of life and prevent renal and neurological complications. Transgenic mice carrying an intact human MCM locus have been produced. Four separate t...

Methods: We performed a retrospective chart review of all patients diagnosed with “probable,” “probable — laboratory supported,” and “definite” ALS, seen in the Wake Forest ALS Clinic from May 2009-May 2012. The following test results were analyzed in 105 individuals with ALS: anti-nuclear antibody, calcium, creatine kinase (CK), c-reactive protein, copper, erythrocyte sedimentation rate (ESR),...

Aim: Deficiency of cobalamin and folate during pregnancy is associated with megaloblastic anemia. Lower levels of folate and vitamin B12 were reported in mothers whose offspring had neural tube defects compared to unaffected controls. Increased methylmalonic acid (MMA) levels are a sensitive indicator of mild vitamin B12 deficiency and elevated homocysteine levels denote vitamin B12 or folate d...