Biotinidase deficiency and juvenile myelomonocytic leukemia in a Turkish infant of consanguineous parents.
Here, a case is presented with two rare genetic disorders, biotinidase deficiency and juvenile myelomonocytic leukemia, in a Turkish infant. This case may serve as a reminder that the diagnosis of a genetic disorder does not exclude the possibility of a second congenital but acquired disease.
Yetgin
Sevgi
S
Department of Pediatric Hematology, Hacettepe University, Ankara, Turkey. yetgins@superonline.com
Aytac
Selin
S
Kalkanoglu
Serap
S
Coskun
Turgay
T
Ortmann
Christina
C
Kratz
Christian
C
Niemeyer
Charlotte
C
D001710:Biotin / Q000627:therapeutic use; D028921:Biotinidase Deficiency / Q000150:complications / Q000188:drug therapy / Q000235:genetics*; D001853:Bone Marrow / Q000473:pathology; D003241:Consanguinity; D005183:Failure to Thrive / Q000209:etiology; D005260:Female; D011905:Genes, ras; D006529:Hepatomegaly / Q000209:etiology; D006801:Humans; D007223:Infant; D015477:Leukemia, Myelomonocytic, Chronic / Q000150:complications / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics; D013163:Splenomegaly / Q000209:etiology
D001710:Biotin