Evaluation of nutritional status and nutritional therapy in patients with propionic and methylmalonic acidemia

Background: The presence of long-term complications such as growth retardation, intellectual disability, chronic kidney failure (CRF), cardiomyopathy (CMP), pancreatitis, seizures and optic nerve atrophy in propionic acidemia (PA) and methylmalonic acidemia (MMA) requires the evaluation of the applied nutritional therapy. In this study, it was aimed to provide information to improve the treatment by determining the nutritional factors that may affect the metabolic control and the development of complications. Material and Method: Demographic data, anthropometric measurements, clinical complications, nutrition programs, plasma quantitative amino acid, urine organic acid, and acylcarnitine in dry blood results of patients diagnosed with PA and MMA, followed in İstanbul Faculty of Medicine, Department of Pediatric Nutrition and Metabolism, from the first admission to the age of 15, patient files were evaluated retrospectively by examining patient records. Results: In the study, 28 PA (18F/10M) and 26 MMA (7F/19M) patients were evaluated. Chronic malnutrition developed with increasing age both in PA and MMA (p<0.05). Mean total energy and protein intake met or exceeded WHO/FAO/UNU 2007 safe levels. 84.6% of PA patients and 62.5% of MMA patients had psychomotor retardation. CMP developed in 46.4% (n=13) of PA patients and CRF in 34.6% (n=9) of MMA patients. Except for methionine, plasma essential amino acids were within the reference range and glycine was above the reference range. Urine tigliglycine and methylcitrate were significantly higher in PA patients than in MMA patients (p<0.05). There was no significant difference in anthropometric measurements, nutritional therapy and laboratory findings of PA patients according to the development of CMP (p>0.05). The percentage of protein intake meeting RDA (height) was significantly higher in MMA patients who developed CRF than those who did not (p=0.042). Plasma isoleucine and valine levels in MMA patients were found to be negatively correlated with special amino acid mixture intake and positively correlated with natural protein intake (p<0.05). Conclusion: CMP and CRF, which are important long-term complications in patients; may develop independently of malnutrition status, nutritional therapy, and biochemical findings. Although energy and protein intake meet the recommendations, all patients should be carefully monitored because growth retardation develops with advancing age. Key Words: Propionic Acidemia, Methylmalonic Acidemia, Cardiomyopathy, Chronic Kidney Failure, Nutritional Status