Çocuk Sağlığı ve Hastalıkları Dergisi 2007 , Vol 50 , Num 1
Glutaric aciduria type 1: report of two cases
Şefika Elmas1, Ülkühan Kaya1, Kürşad Aydın2, V. Meltem Energin2
1Selçuk Üniversitesi Tıp Fakültesi Pediatri Araştırma Görevlisi
2Selçuk Üniversitesi Tıp Fakültesi Pediatri Doçenti
Elmas Ş, Kaya Ü, Aydın K, Energin VM. (Department of Pediatrics, Selçuk University Faculty of Medicine, Konya, Turkey). Glutaric aciduria type 1: report of two cases. Çocuk Sağlığı ve Hastalıkları Dergisi 2007; 50: 31-35.

Glutaric aciduria type 1 is an autosomal recessive metabolic disease that is due to a deficiency of glutaryl-Co-A dehydrogenase in the metabolism of lysine, hydroxylysine and tryptophane. It usually appears as the loss of gained motor skills, a previously well child suffering spastic cerebral palsy, choreoathetosis, dystonia and mental retardation following a febrile illness associated with acute mental deterioration in the first three years of life. Less commonly, it may clinically appear as a progressive course of mental deterioration or isolated macrocephaly. Here, we report a 23-month-old boy who could not speak or walk and an eight-month-old girl with seizures and loss of previously gained motor skills. The two cases, having frontotemporal atrophy and basal ganglia degeneration on cerebral magnetic resonance imagings, and increased glutaryl-carnitine, glutaric and 3-hydroxy glutaric acid levels in tandem-mass spectrometer and urine organic acid quantification by gas chromatography, were diagnosed as glutaric aciduria type 1. We report these two cases to emphasize that it is a rare disease and must be considered in the differential diagnosis of cerebral palsy. Anahtar Kelimeler : glutarik asidüri tip 1, frontotemporal atrofi, ayırıcı tanı, serebral palsi, glutaric aciduria type 1, frontotemporal atrophy, differential diagnosis, cerebral palsy

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