Isovaleric Acidemia: Case Report

Year 2008, Volume: 2 Issue: 2, 329 - 331, 27.07.2008

Gülsüm İclal Bayhan

Abstract

Isovaleric acidemia is a rare (incidence: 1/250. 000) autosomal recessive metabolic disorder of the enzyme isovaleryl CoA dehydrogenase which is involved in leucin metabolism. Clinical symptoms include poor feeding, tachypnea,vomiting, listlessness, dehydration, lethargy and coma. Early diagnose and treatment can prevent psychomotor retardation and death. Here, a 6 day old newborn who presented with neonatal encephalopathy and was diagnosed as isovaleric acidemia was reported with literature highlight.

Keywords

sovaleric acidemia, inborn errors of metabolism, neonatal encephalopathy

İzovalerik Asidemi

Abstract

İzovalerik asidemi, izovaleril coA dehidrogenaz enzim eksikliğine bağlı gelişen otosomal resesif geçişli nadir (sıklık: 1/230.000) görülen bir lösin metabolizması bozukluğudur. Hastalarda kusma, dehidratasyon, hipotoni, asidoz, letarjiden komaya kadar gidebilen bilinç bozuklukları görülebilir. Terli ayak kokusunun bulunması karakteristiktir. Erken tanı ve tedavi ile psikomotor retardasyon ve ölüm önlenebilir. Bu yazıda neonatal ensefalopati tablosu ile başvuran ve izovalerik asidemi tanısı konulan altı günlük bir yenidoğan olgu literatür bilgileri ışığında sunuldu.

Keywords

İzovalerik asidemi, doğuştan metabolizma hastalıkları, neonatal ensefalopati

References

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