Description

Elevated levels of methylmalonic acid (MMA) result from inherited defects of enzymes involved in MMA metabolism or inherited or acquired deficiencies of vitamin B12 (cobalamin) or its downstream metabolites. Acquired deficiencies of vitamin B12 are much more common and can be due to intestinal malabsorption, impaired digestion, or poor diet. Older adult patients with cobalamin deficiency may present with peripheral neuropathy, ataxia, loss of position and vibration senses, memory impairment, depression, and dementia in the absence of anemia. Other conditions such as kidney insufficiency, hypovolemia, and bacterial overgrowth of the small intestine also contribute to the possible causes of mild methylmalonic acidemia and aciduria. Ref. Value: < or =0.40 nmol/mL

Pre-Information

Submit first morning urine sample. Provide a brief clinical and drug history.