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Dergiler / Çocuk Dergisi / 2026 / Cilt: 24 Sayı: 3

Evaluation of Complete Blood Count Parameters in Patients with Methylmalonic Acidemia

Mehmet Cihan Balcı(İstanbul Medical Faculty Children’s Hospital Division of Nutrition and Metabolism, İstanbul University)0000-0002-3384-8679
Meryem Karaca(İstanbul Medical Faculty Children’s Hospital Division of Nutrition and Metabolism, İstanbul University)0000-0002-0662-7344
Gülden Fatma Gökçay(İstanbul Medical Faculty Children’s Hospital Division of Nutrition and Metabolism, İstanbul University)0000-0003-3726-5726
Sayfa
141–146
Yayın Tarihi
2025-01-03
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⚡ TL;DR(1 Cümlede Hızlı Çıkarım)

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.

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Amaç & Hipotez: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.
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Temel Bulgular & Veri:Methods: Demographic and laboratory data of 46 patients diagnosed by acylcarnitine, urine organic acid, and/or molecular analyses for methylmalonic acidemia were evaluated.
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Sonuç & Katkı: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.
🔬Tür:Araştırma Makalesi
📍Kapsam:Genişletilmiş Akademik Örneklem
⚙️Değişkenler:Methylmalonic acidemia · anemia · thrombocytopenia

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.

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Bu Makaleye Atıf Yap

Balcı, M. C., Karaca, M., Gökçay, G. F. (2025). Evaluation of Complete Blood Count Parameters in Patients with Methylmalonic Acidemia. Çocuk Dergisi, Cilt: 24 Sayı: 3, 141–146. https://doi.org/10.26650/jchild.2024.1504954

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