Succinic semialdehyde dehydrogenase deficiency: Case reports
Erciyes Tip Dergisi, cilt.30, sa.3, ss.180-183, 2008 (Scopus, TRDizin)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 30 Sayı: 3
- Basım Tarihi: 2008
- Dergi Adı: Erciyes Tip Dergisi
- Derginin Tarandığı İndeksler: Scopus, TR DİZİN (ULAKBİM)
- Sayfa Sayıları: ss.180-183
- Anahtar Kelimeler: Child, Deficiency, Gamma hydroxybutyrate, Succinate-Semialdehyde, Dehydrogenase
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
Succinate-semialdehyde dehydrogenase (SSADH) deficiency is a rare neurometabolic disorder of v-amino butiric acid catabolism with autosomal recessive inheritance. Accumulation of ghydroxybutyrate in urine and plasma is biochemically key finding. SSADH deficiency can be demonstrated by measuring level of SSADH enzyme in lymphocytes or leukocytes. In a child with mental retardation and speech disorder the isolated pallidal brain magnetic resonance pattern with absent white-matter changes should raise the suspicion of SSADH deficiency and prompt biochemical analysis of hydroxybutyrate.