title: Biotinidase deficiency and juvenile myelomonocytic leukemia in a Turkish infant of consanguineous parents.
abstract: 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.
authors: Department of Pediatric Hematology, Hacettepe University, Ankara, Turkey. yetgins@superonline.com
authors: Sevgi
authors: S
authors: Yetgin
authors: Selin
authors: S
authors: Aytac
authors: Serap
authors: S
authors: Kalkanoglu
authors: Turgay
authors: T
authors: Coskun
authors: Christina
authors: C
authors: Ortmann
authors: Christian
authors: C
authors: Kratz
authors: Charlotte
authors: C
authors: Niemeyer
mesh_terms: 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
chemical_list: D001710:Biotin