Two patients with glutaric aciduria type 3: a novel mutation and brain magnetic resonance imaging findings

Dorum S., Havali C., Gorukmez O., Gorukmez O.

TURKISH JOURNAL OF PEDIATRICS, cilt.62, sa.4, ss.657-662, 2020 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 62 Sayı: 4
  • Basım Tarihi: 2020
  • Doi Numarası: 10.24953/turkjped.2020.04.017
  • Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, CAB Abstracts, EMBASE, MEDLINE, Veterinary Science Database, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.657-662
  • Bursa Uludağ Üniversitesi Adresli: Evet

Özet

Background. Glutaric Aciduria Type 3 (GA-3) is a rare metabolic disease which is inherited autosomal recessively and characterized by isolated glutaric acid excretion. To date, a limited number of cases have been reported in the literature. We present two patients with GA3 who were diagnosed with the isolated increased level of glutaric acid in urine.