D-Bifunctional protein deficiency: Case report D-Bifonksiyonel protein eksikliǧi: Olgu sunumu
Erciyes Tip Dergisi, cilt.31, sa.SUPPL. 1, 2009 (Scopus, TRDizin)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 31 Sayı: SUPPL. 1
- Basım Tarihi: 2009
- Dergi Adı: Erciyes Tip Dergisi
- Derginin Tarandığı İndeksler: Scopus, TR DİZİN (ULAKBİM)
- Anahtar Kelimeler: Child, Peroxisomal Disorders
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
D-bifunctional protein (DBP) deficiency is a disease with autosomal recessive inherent and disrupting of peroxisomal fatty acid oxidation. Clinical observations are neonatal hypotonia and seizures, facial dysmorphism and severe psychomotor delay. Biochemical findings are commonly highly elevated levels of very long change fatty acids in plasma and cultured fibroblasts. DBP deficiency is diagnosed by measuring the DBP enzyme activity in fibroblasts. Herein, we present a three-year old boy who had been diagnosed as cerebral palsy and then he was diagnosed as DBP deficiency. In patients with physicomotor retardation, seizure, motor neuropaty, visual system failure and loss of hearing with unknown origin, DBP deficiency should be considered.