Özet:

Glutaric aciduria type 2, an organic acid disorder, is a neurodegenerative, slowly progressing metabolic disease inherited in an autosomal recessive pattern. There is multiple acyl co-enzyme A dehydrogenase deficiency and it leads to deficiencies of electron transferring flavoprotein (ETF) and electron transferring flavoprotein dehydrogenase (ETF-DH) acyl coenzyme A dehydrogenases. In neonatal-onset form, the patients present with hypotonia, hypoglycemia and metabolic acidosis, whereas in late-onset form the patients may develop proximal myopathy and recurring vomiting episodes along with hypoglycemia. Characteristically, sweaty foot odor is recognized.In this paper, we presented a patient diagnosed with glutaric aciduria type 2 by the presence of increased serum glutaric acid, motor developmental delay within the first year of life and mental retardation that had become evident in the second year of life along with febrile and nonfebrile convulsions, whose clinical status was dramatically improved with carnitine and intense supportive treatment

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