Evaluation of Complete Blood Count Parameters in Patients with Methylmalonic Acidemia

Abstract

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.

Keywords

• methylmalonic acidemia
• anemia
• thrombocytopenia
• renal failure
• bone marrow