Methylmalonic acidurias (MMAurias) are a heterogeneous group of inherited metabolic disorders (IMDs) leading to increased urinary methylmalonic acid excretion.1 The aetiology of MMAurias includes isolated and combined with hyperhomocystenaemia.2Isolated MMAuria is caused by complete or partial deficiency of the enzyme methylmalonyl-CoA mutase
(MCM) usually with normal serum methionine concentration.3,4 In intracellular Cobalamin-related remethylation disorders (Cb1-RD), MMAuria and hyperhomocystenaemia are present.
LDHA, lactate dehydrogenase A; LDHB, lactate dehydrogenase B; PDHA1, pyruvate dehydrogenase (lipoamide) alpha 1; DLAT, dihydrolipoamide S-cetyltransferase; DLD, dihydrolipoamide dehydrogenase; GK, glycerol kinase; GPD1, glycerol-3-phosphate dehydrogenase 1; GPD2, glycerol -3-phosphate dehydrogenase 2; ACSS3, acyl CoA synthetase short chain family member 3; PCCA, propionyl CoA carboxylase alpha; PCCB, propionyl CoA carboxylase beta; MCEE, methylmalonyl CoA epimerase; MUT, methylmalonyl CoA mutase
MMA, is a rare, autosomal recessive organic acidemia/aciduria, most commonly caused by a deficiency of the enzyme methylmalonic CoA mutase
, due to a defective or missing MUT protein.
Cobalamin is an essential water soluble vitamin  required as a coenzyme for methionine synthase and methylmalonyl-CoA mutase
, in the methylation of DNA and the Krebs cycle, respectively.
These include phosphoglycerate mutase
1 (PGAM1), triose phosphate isomerase (TPIS), and alpha enolase (ENOA).
Within cells, phosphomannose mutase
(PMM) catalyses the conversion of mannose-6-phosphate to mannose-1-phosphate.
Results have shown a reasonable increase in activity of antioxidant enzyme superoxide dis mutase
under different salinity levels.
An 11-year-old male with a past medical history of mut0 (mutase
absent) MMA, chronic constipation, poor feeding (requiring a gastrostomy tube), and stage III chronic kidney disease (CKD) presented to a neurologist with weekly throbbing headaches that coincided with nausea, vomiting, and photophobia.
The glycolysis genes include phosphoglycerate mutase
1 (5223), glyceraldehyde-3-phosphate dehydrogenase (2597), and glucose-6-phosphatase (57818).
pylori, complementary primers for glmM (phosphoglucosamine mutase
) were used (3).
Total parenteral nutrition via a central venous catheter Lai 2010 Congenital short bowel Syndrome, hypogammaglobulinemia, Porth-A-cath for total parenteral nutrition Becker 2008 Methylmalonic aciduria due to a noncobalamin- responsive deficiency of methylmalonyl coenzyme A mutase
. Subcutaneous implantable vascular-access port (Port-A-Cath; Vital-Port) for intravenous diet
The majority of these expressed proteins were involved in glycolysis (enolase, fructose-bisphosphate aldolase, glyceraldehyde-3-phosphate dehydrogenase, L-lactate dehydrogenase, 6-phosphofructokinase, glucose-6-phosphate isomerase, phosphoglycerate kinase, phosphopyruvate hydratase, pyruvate kinase, triosephosphate isomerase, and 2,3-bisphosphoglycerate-dependent phosphoglycerate mutase
) and the remaining proteins were involved in fer-mentation (alcohol-acetaldehyde dehydrogenase, formate ace-tyltransferase, and pyruvate-formate lyase), the pentose phosphate pathway (6-phosphogluconate dehydrogenase [decarboxylating]), pyruvate decarboxylation (pyruvate dehydrogenase complex E2 component), and the urea cycle (ornithine carbamoyltransferase).