Akademik Veri Yönetim Sistemi
MİTOKONDRİYAL YAĞ ASİDİ OKSİDASYON DEFEKTLERİ, GÜNCEL GELİŞMELER VE POTANSİYEL TEDAVİ YAKLAŞIMLARI, fatma tuba eminoğlu,Engin Köse, Editör, Türkiye Klinikleri Yayınevi, Ankara, ss.5-12, 2022
Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) is the most common fatty acid oxidation disorder. Patients are usually asymptomatic until a state of prolonged fasting or catabolic stress. If left untreated during long periods of starvation and sickness, it progresses to coma and death. Hypoketotic hypoglycemia, metabolic acidosis, and elevated liver enzymes develop due to the accumulation of acylglycine-acylcarnitine-esters-dicarboxylic acids and oxidative stress. Since it is included in the newborn screening program in many countries, the mortality rate has decreased from 25% to 3.5-10%. Hepatomegaly, fatty liver, neuromotor findings and disability may develop due to metabolic decompensation, and rarely cardiac-renal problems and sudden death may result. Dry blood sample taken at the time of the attack (C8- C6- C10- C10:1 high carnitine level, low C0 and C2-carnitine levels) and in the urine organic acid analysis (Hexanoylglycine> octanoylglycine> decanoylglycine) are essential for diagnosis. Consumption of an age-appropriate healthy diet, frequent feeding, and not using foods containing medium-chain triglycerides as the primary source of fat, and not using prohibited substances are the basis of treatment.