Clinical Course and Nutritional Management of Propionic and Methylmalonic Acidemias.

Propionic and methylmalonic acidemias result in multiple health problems including increased risk for neurological and intellectual disabilities. Knowledge regarding factors that correlate to poor prognosis and long-term outcomes is still limited. In this study, we aim to provide insight concerning clinical course and long-term complications by identifying possible correlating factors to complications. Results. This is a retrospective review of 20 Egyptian patients diagnosed with PA (n = 10) and MMA (n = 10) in the years 2014-2018. PA patients had lower DQ/IQ and were more liable to hypotonia and developmental delay. The DQ/IQ had a strong negative correlation with length of hospital stay, frequency of PICU admissions, time delay until diagnosis, and the mode ammonia level. However, DQ/IQ did not correlate with age of onset of symptoms or the peak ammonia level at presentation. Both the growth percentiles and albumin levels had a positive correlation with natural protein intake and did not correlate with the total protein intake. Additionally, patients on higher amounts of medical formula did not necessarily show an improvement in the frequency of decompensation episodes. Conclusion. Our findings indicate that implementation of NBS, vigilant and proactive management of decompensation episodes, and pursuing normal ammonia levels during monitoring can help patients achieve a better neurological prognosis. Furthermore, patients can have a better outcome on mainly natural protein; medical formula should only be used in cases where patients do not meet 100-120% of their DRI from natural protein.

Propionic and Methylmalonic Acidemias: Initial Clinical and Biochemical Presentation.

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.