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.
References
- 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.
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.
References
- 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.
Details
| Primary Language | Turkish |
|---|---|
| Subjects | Infant and Child Health |
| Journal Section | Case Reports |
| Authors | |
| Publication Date | July 27, 2008 |
| Published in Issue | Year 2008 Volume: 2 Issue: 2 |
