BACKGROUND/AIMS Normal or high serum vitamin B-12 levels can sometimes be seen in a B-12 deficient state, and can therefore be misleading. High levels of Methymalonic Acid (MMA) and Homocysteine (HC) have been identified as better indicators of B-12 deficiency than the actual serum B-12 level itself. We evaluated the prevalence of vitamin B-12 deficiency using appropriate cut-off levels of vita...

Because of this specificity, a proportion of patients who are investigated for vitamin B 12 deficiency will end up being tested for the presence of IFABs, regardless of the diagnostic cascade favored by the investigating physician(s) (1, 2). In referral laboratories, this may lead to substantial test volumes of labor-intensive manual RIAs, with all the associated problems. These range from an i...

Most of the inborn errors of metabolism (IEM) are autosomal recessively inherited and they are more frequent in the countries where consanguineous marriages are commonly practiced. Rarely, more than one IEM are seen in the siblings of one family or in the same sibling. Here we report a patient with both argininosuccinic aciduria (ASA) and methylmalonic acidemia (MMA) and our therapeutic approac...

PURPOSE To present the CT and MR findings in children with propionic and methylmalonic acidemia. METHODS Twenty-three new patients with methylmalonic and 20 with propionic acidemia were examined with CT and/or MR of the brain. In total 52 CT and 55 MR studies were done. Twenty-six previously published cases were also reviewed. RESULTS The findings were similar in the two syndromes. During t...