Glutaric aciduria type 1Sema Saltık, Müferet Ergüven, Sibel Sevük, Nurcan ÖzümüztoprakSSK Goztepe Hospital Pediatric Clinic, Istanbul
Glutaric aciduria type 1 is a rare metabolic disorder that is caused by deficiency of glutaryl-coenzyme-A dehydrogenase. Early diagnosis and intensive management of this disease
could alter the naturel of the disorder. We report a 8 months old case with glutaric aciduria type 1 who presented as macrocephaly to emphazise the importance of the cranial MRI findings to diagnose this disease. Since his cranial MRI findings were suggestive of glutaric aciduria type 1, metabolic analyse was planned to establish the diagnosis of this disorder. Keywords: Glutaric aciduria type 1, cranial MRI, macrocephaly
Glutarik asidüri tip 1Sema Saltık, Müferet Ergüven, Sibel Sevük, Nurcan ÖzümüztoprakSSK Göztepe Eğitim Hastanesi Pediatri Kliniği, İstanbul
Anahtar Kelimeler: Glutarik asidüri tip 1, kranial MRI, makrosefali
Sema Saltık, Müferet Ergüven, Sibel Sevük, Nurcan Özümüztoprak. Glutaric aciduria type 1. Medeniyet Med J. 2005; 20(1): 54-56
Corresponding Author: Sema Saltık, Türkiye |
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