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...

Malonic acid silylatesreadily to yield the expected bis-trimethylsilyl (TMS) ester; this ester reacts further in the silylating mixture to yield a tris-TMS derivative, apparently through enolization of one of the ester groups. Methylmalonic and hydroxymalonic acids behave similarly. The methyl and ethyl esters of malonic acid also silylate once with some facility. Mass spectra of these derivati...

This study aimed to compare the vitamin B(12)and folate status of recreational endurance athletes and inactive controls by modern biomarkers. In 72 athletes (38 +/- 7 y) and 46 inactive controls (38 +/- 9 y) serum levels of vitamin B(2), methylmalonic acid (MMA), holotranscobalamin II (holoTC), folate, and homocysteine (Hcy) were measured. Vitamin B(12)and folate levels of both groups were comp...

Objective: Vitamin B12 deficiency is a common health issue in children. Though the sensivity of serum vitamin measurement for diagnosis low, combined methylmalonic acid, homocysteine and holotranscobalamin have been reported to be more specific biomarkers early accurate diagnosis. In this study, we aimed verify children by measuring homocysteine, determine accuracy them.
 
 Material M...

We describe the first case of a Kocuria rhizophila infection in a boy with methylmalonic aciduria. A single clone was isolated from blood samples drawn through a port system and from peripheral veins during septic episodes within a 2-year period. K. rhizophila expands the emerging number of "micrococci" considered to be etiologically relevant.