inborn errors of organic acid metabolism are relatively recently recognized diseases with a wide spectrum of clinical signs and symptoms: ranging from asymptomatic, normal appearing children to death during first few days of life.in my presentation i will try to explain some of the most common clinical presentation of these disorder with stress on neurologic findings. organic acidemia usually h...

True positive result denotes correct placement of hemodialysis catheter according to bubble-enhanced ultrasound and chest radiography. True negative result 1⁄4 incorrect placement of hemodialysis catheter according to bubble-enhanced ultrasound and chest radiography. False positive result 1⁄4 correct placement of hemodialysis catheter according to bubble-enhanced ultrasound not confirmed by che...

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...

Cobalamin neuropathy was produced in Cape fruit bats (Rousettus aegyptiacus) by a cobalamin-free diet combined with intermittent exposure to nitrous oxide, which inactivates cobalamin. Cobalamin-deficient bats had low hepatic methylmalonyl-CoA mutase holoenzyme activity, with elevated plasma and urinary methylmalonic acid levels. No significant changes could be demonstrated in the concentration...