Hereditary MethemoglobinemiaTolga Yakar1, Nejat Altıntaş2, Atalay Surardamar1, Fatih Akdoğan1, Taha Tahir Bekçi11Haydarpasa Numune Hospital, Internal Medicine Clinic, Istanbul
2SSK Sureyyapasa Hospital, Chest Diseases, Istanbul
Hereditary methemoglobinemia is an autosomal dominant disorder which is due to either to the presence of one of the M hemoglobins or the deficiency of the enzyme cytochrome B5 reductase. Cytochromeb5 reductase reductase deficiency have lifelong cyanosis of variable degree, depending on the level of methemoglobin, but usually have no associated symptoms or other physical findings.
A 18 year old male referred our hospital with breathlessness, weakness, headache, central cyanosis which is sustained from the birth. He had been investigated by cardiology and pneumonology departments of different hospitals in respect of congenital
heart diseases and lung diseases. Our diagnostic evaluation revealed hereditary methomoglobinemia. We found cytchrome b5 reductase enzyme deficiency in this patient.
Methoboglobinemia especially hereditay form is rare cause of central type cyanosis that is way when we investigate cyanosis in adult patient, we should keep hereditary methomoglobinemia in our minds. Keywords: Hereditary methemoglobinemia, cycthcrome B5 reductase enzyme, hemoglobine M
Herediter MethemoglobinemiTolga Yakar1, Nejat Altıntaş2, Atalay Surardamar1, Fatih Akdoğan1, Taha Tahir Bekçi11Haydarpaşa Numune Hastanesi, İç Hastalıkları Kliniği, İstanbul
2SSK Süreyyapaşa Hastanesi, Göğüs Hastalıkları Kliniği, İstanbul
Anahtar Kelimeler: Herediter mnethemoglobinemi, sitokrom B5 reduktaz enzimi, hemoglobin M
Tolga Yakar, Nejat Altıntaş, Atalay Surardamar, Fatih Akdoğan, Taha Tahir Bekçi. Hereditary Methemoglobinemia. Medeniyet Med J. 2002; 17(1): 59-60
Corresponding Author: Nejat Altıntaş, Türkiye |
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