Abstract
PCC deficiency has usually been distinguished by markedly increased concentrations of propionic acid (PA) in blood. These increases have been particularly striking in neonates who are ill as a result of PCC deficiency. With one exception such neonates in our experience have had elevations of serum PA ranging from 150-400 μM, levels that are 100 fold greater than normal (2.32±0.32) for this age. The exception was a female infant who died at 4 weeks of age after a course characterized by lethargy, weight loss, metabolic acidosis, hyperammonemia and hyperglycinemia. Several gas chromatographic (GC) analyses of serum both before and after hyperalimentation revealed only relatively mild increases of PA. Urinary methylcitrate (MC), however, was found to be markedly increased by GC-mass spectrometry. Intravenous biotin was ineffective in reducing the accumulations of either MC or PA. Enzyme studies of fibroblasts grown from skin obtained postmortem revealed a specific deficiency of PCC (11 picomoles/min/mg protein; normal 863±102) and normal β-methylcrotonyl-CoA carboxylase activity (346; normal 283±35).
In PCC deficiency, MC, a condensation product of propionyl-CoA and oxalacetate, may accumulate at the expense of propionyl-CoA. Such individuals would have relatively small increases in PA and the PCC deficiency might be unrecognized unless analysis for urinary MC is performed.
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Sepe, S., Costello, C., Herrir, J. et al. 893 URINARY METHYLCITRATE AS DISTINGUISHING FEATURE IN NEONATAL PROPIONYL-CoA CARBOXYLASE (PCC) DEFICIENCY. Pediatr Res 12 (Suppl 4), 512 (1978). https://doi.org/10.1203/00006450-197804001-00898
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DOI: https://doi.org/10.1203/00006450-197804001-00898