PA and MAA have numerous nonspecific presentations, potentially leading to delayed diagnosis or misdiagnosis. In this paper, we present the clinical and biochemical characteristics of MMA and PA patients at initial presentation. Results. This is a retrospective review of 20 patients with PA ( n = 10 ) and MMA ( n = 10 ). The most observed symptoms were vomiting (85%) and refusing feeding (70%). Ammonia was 108.75 ± 9.3 μmol/l, showing a negative correlation with pH and bicarbonate and positive correlation with lactate and anion gap. Peak ammonia did not correlate with age of onset ( r = 0.11 and p = 0.64 ) or age at diagnosis ( r = 0.39 and p = 0.089 ), nor did pH ( r = 0.01 , p = 0.96 ; r = − 0.25 , p = 0.28 ) or bicarbonate ( r = 0.07 , p = 0.76 ; r = − 0.22 , p = 0.34 ). There was no correlation between ammonia and C3 : C2 ( r = 0.1 and p = 0.96 ) or C3 ( r = 0.23 and p = 0.32 ). The glycine was 386 ± 167.1 μmol/l, and it was higher in PA ( p = 0.003 ). There was a positive correlation between glycine and both pH ( r = 0.56 and p = 0.01 ) and HCO3 ( r = 0.49 and p = 0.026 ). There was no correlation between glycine and ammonia ( r = − 0.435 and p = 0.055 ) or lactate ( r = 0.32 and p = 0.160 ). Conclusion. Clinical presentation of PA and MMA is nonspecific, though vomiting and refusing feeding are potential markers of decompensation. Blood gas, lactate, and ammonia levels are also good predictors of decompensation, though increasing levels of glycine may not indicate metabolic instability.
Long-term dietary management of Propionic acidemia (PA) includes natural protein restriction, and supplementation with medical formula enriched with leucine (Leu) and free of valine (Val), isoleucine (Ileu), methionine (Met), and threonine (Thr). As PA medical formulas have high leucine content, concerns started to arise regarding potential long-term health risks of unbalanced leucine intake. PA patients have chronically low plasma levels of Ile and Val, which led to the paradoxical need to supplement with propiogenic single amino acids (AAs). Our report takes a retrospective look at the long-term dietary management of four patients and its reflection on their plasma amino acids. The patients' total protein intake was above the recommended dietary allowance (RDA) and had a high Leu/Val and Leu/Ile intake ratios in diet. Despite adequate total protein intake, patients had chronically low plasma Ile and Val and a high plasma Leu/Val and Leu/Ile ratios, which could be attributed to high Leu intake. We conclude that the best approach to PA dietary management is to only use medical formula with patients not meeting their RDA through natural protein, and to monitor plasma amino acids levels closely.
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