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Propionyl-CoA carboxylase (PCC) deficiency is an inherited metabolic disorder showing considerable variability of expression. We have investigated the possibility that there is a genetic basis for the clinical heterogeneity in this disorder by examining complementation in Sendai virus mediated heterokaryons of mutant fibroblast strains. Restoration of PCC(More)
Cultured fibroblasts from a young girl with ketotic hyperglycinemia were unable to oxidize propionate-(14)C to (14)CO(2), but oxidized methylmalonate-(14)C and succinate-(14)C normally. This block in propionate catabolism was shown to result from a lack of propionyl-CoA carboxylase activity. The carboxylase deficiency was not due to the presence of an(More)
OBJECTIVE To study the association between historical and physical examination findings and radiographic pneumonia in children who present with suspicion for pneumonia in the emergency department, and to develop a clinical decision rule for the use of chest radiography. METHODS We conducted a prospective cohort study in an urban pediatric emergency(More)
We report some properties of propionyl CoA carboxylase (PCC) partially purified from cultured human fibroblasts obtained from controls and several patients with propionic acidemia. A series of steps (Triton X-100 treatment, high speed centrifugation, ammonium sulfate precipitation, and density gradient centrifugation) led to 100- to 300-fold purification of(More)
Biochemical disturbances common to vitamin B12 and folate deficiency were investigated in leukocytes from patients with cobalamin deficiency. The investigations focused on the only two human metabolic pathways known to require vitamin B12. In the propionate pathway, deoxyadenosylcobalamin is required for isomerization of methylmalonyl-CoA to succinyl-CoA.(More)
BACKGROUND The value of physical examination findings in the diagnosis of pneumonia in children may be limited, and the accuracy of physicians in predicting pneumonia is not known. OBJECTIVE We sought to determine the correlation between physicians' assessment of the likelihood of pneumonia and radiographic presence of pneumonia. METHODS Prospective(More)