Isovaleric Acidemia: Case Report

Yıl 2008, Cilt: 2 Sayı: 2, 329 - 331, 27.07.2008

Gülsüm İclal Bayhan

Öz

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.

Anahtar Kelimeler

sovaleric acidemia, inborn errors of metabolism, neonatal encephalopathy

İzovalerik Asidemi

Öz

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.

Anahtar Kelimeler

İzovalerik asidemi, doğuştan metabolizma hastalıkları, neonatal ensefalopati

Kaynakça

• 1. Brunham LR. A common mutation in IVD associated with asymptomatic isovaleric acidemia: implications for newborn screening. Clin Genet 2005; 67: 226-7.
• 2. Vockley J, Ensenauer R. Isovaleric acidemia: new aspects of genetic and phenotypic heterogeneity. Am J Med Genet C Semin Med Genet 2006; 142C(2):95-103.
• 3. Tokatlı A, Coşkun T, Özalp I. Isovaleric acidemia. Clinical presentation of 6 cases. Turk J Pediatr 1998;40:111-9.
• 4. Mayatepek E, Kurczynski TW, Hoppel CL. Long-term L-carnitine treatment in isovaleric acidemia. Pediatr Neurol 1991;7:137-40.
• 5. Mehta K C, Zsolway K, Osterhoudt KC, Krantz I, Henretig FM, Kaplan P. Lessons from the late diagnosis of isovaleric acidemia in a five-year-old boy. J Pediatr 1996;129: 309-10.
• 6. Loots DT, Erasmus E, Mienie LJ. Identification of 19 new metabolites induced by abnormal amino acid conjugation in isovaleric acidemia. Clin Chern 2005;51:1510-2.
• 7. Hüner G, Baykal T, Demir F, Demirkol M. Breastfeeding experience in inborn errors of metabolism other than phenylketonuria. J Inherit Metab Dis 2005;28:457-65.