Evaluation of Complete Blood Count Parameters in Patients with Methylmalonic Acidemia

Objective: We aimed to evaluate the frequency of pathological changes in blood parameters and their relationship with serum creatinine and glomerular filtration rate (GFR) in patients with methylmalonic acidemia. Methods: Demographic and laboratory data of 46 patients diagnosed by acylcarnitine, urine organic acid, and/or molecular analyses for methylmalonic acidemia were evaluated. In all patients, complete blood counts, serum iron concentrations, serum iron-binding capacity, vitamin B12 and folate concentrations, and serum creatinine tests were performed during the period when the patients were metabolically stable. Results: Among the 46 patients with anaemia, 54.3% had anaemia of chronic disease, 19.6% had iron deficiency anaemia. Bicytopenia was detected in 17.4%. There was a negative correlation between serum creatinine levels and leucocyte, lymphocyte, erythrocyte, and platelet counts. GFR values were positively correlated with haemoglobin value, leukocyte, lymphocyte, erythrocyte, and platelet counts. Conclusions: The presence of anaemia, neutropenia, thrombocytopenia, and erythrocyte volume changes in patients with methylmalonic acidemia apart from the metabolic attack period is a situation that reveals the necessity of a detailed nutritional evaluation of patients. Evaluation of renal function in the presence of haematological complications and taking precautions if signs of renal failure are noted may prevent worsening of complications.