Recurrent infections are common features in patients affected by propionic acidaemia (McKusick 232000) and methylmalonic acidaemia (McKusick 251000). Since these disorders are biochemically characterized by tissue accumulation of propionic acid and methylmalonic acid respectively, it is possible that these compounds may act as immunosuppressants. We therefore investigated the effect of propiona...

inherited disease, 7th ed. New York: McGraw-Hill, 1995:791–801. 5. Tanaka K, Orr JC, Isselbacher KJ. The identification of -hydroxyisovaleric acid in the urine of a patient with isovaleric acidemia. Biochem Biophys Acta 1968;152:638–41. 6. Tanaka K, Ikeda Y, Matsubara Y, Hyman D. Molecular basis of isovaleric acidemia in the study of the acyl-CoA dehydrogenase family. Adv Neurol 1988;48:107–31....

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...

A common polymorphism (775G>C) in the vitamin B12 transport protein, transcobalamin II (TCII), has been identified in which proline replaces arginine at codon 259. We determined the influence of TCII genotype on indices of B12 status, including total serum B12, the amount of B12 bound to TCII (holoTCII), methylmalonic acid, and homocysteine, in 128 healthy older adults (ages 40-88 years). Mean ...

Methylmalonyl-CoA mutase (MCM) is a nuclear encoded mitochondrial matrix enzyme which catalyses the isomerisation between methylmalonyl-CoA and succinyl-CoA. Inborn genetic defects in the MUT gene encoding human MCM give rise to a serious disorder of propionic acid and methylmalonic acid metabolism termed mut methylmalonic aciduria (Crane et al., 1994). The clinical manifestation of the disease...

BACKGROUND Plasma methylmalonic acid (MMA) is a specific marker for functional cobalamin deficiency. This deficiency can give rise to non-specific but serious symptoms in childhood such as developmental delay, convulsions and failure to thrive and may even lead to irreversible neurological damage. AIM OF THE STUDY To analyse plasma MMA concentrations in Dutch children and to evaluate possible...

objective: methylmalonic acidura (mma) is a rare autosomal recessive inborn error of metabolism. in this study we present a novel nucleotide change in the mutase (mut) gene of two unrelated iranian pedigrees and introduce the methods used for its functional analysis. materials and methods: two probands with definite diagnosis of mma and a common novel variant in the mut were included in a descr...

Hematological parameters, serum cobalamin and folate levels, and the concentrations of the functional markers plasma methylmalonic acid and total homocysteine were determined in 173 newborns and 46 infants at 6 weeks to see whether maternal smoking influences the hematological parameters and the vitamin status of the newborn. At birth, there was a strong inverse correlation between the number o...