Glutarik Asidüri Tip 2

Öz

Bir organik asit bozukluğu olan glutarik asidüri tip 2 otozomal resesif geçişli, yavaş seyirli nörodejeneratif bir metabolik hastalıktır. Multipl açil koenzim A dehidrogenaz eksikliği söz konusu olup elektron taşıyıcı flavoprotein (ETF) ve elektron taşıyıcı flavoprotein dehidrogenaz (ETF-DH) açil koenzim A dehidrogenazların eksikliğine neden olur. Neonatal başlangıçlı formda hastalar hipotoni, hipoglisemi ve metabolik asidoz ile; geç başlangıçlı formda ise hipoglisemi ile beraber proksimal miyopati ve tekrarlayan kusma epizotları ile başvurabilir. Karakteristik olarak terli ayak kokusu saptanır.Burada hayatın ilk yılında motor gelişim basamaklarında gecikme, bazen ateşli bazen de ateşsiz nöbetler ile ikinci yılda belirginleşen mental gerilik ve serumda artmış glutarik asit varlığı ile glutarik asidüri tip 2 tanısı alan, karnitin ve yoğun destek tedavisi ile klinik durumunda dramatik düzelme sağlanan bir olgu sunulmuştur.

Anahtar Kelimeler

• Hipoglisemi, glutarik asidüri, çocuk

GLUTARIC ACIDURIA TYPE 2

Öz

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

Anahtar Kelimeler

• Hypoglycemia, glutaric aciduria, child

Kaynakça

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