Pyruvate carboxylase deficiency type C as a differential diagnosis of diabetic ketoacidosis

DOĞULU N., Oncul U., KÖSE E., AYCAN Z., EMİNOĞLU F. T.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.34, sa.7, ss.947-950, 2021 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 34 Sayı: 7
  • Basım Tarihi: 2021
  • Doi Numarası: 10.1515/jpem-2020-0646
  • Dergi Adı: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, CAB Abstracts, EMBASE, MEDLINE
  • Sayfa Sayıları: ss.947-950
  • Anahtar Kelimeler: diabetic ketoacidosis, pyruvate carboxylase deficiency, Type C
  • Ankara Üniversitesi Adresli: Evet

Özet

Objectives: Type C pyruvate carboxylase (PC) deficiency is extremely rare, and has been described in only a few patients in literature to date. Herein, we present the case of a four-year-old patient admitted with diabetic ketoacidosis and diagnosed with type C PC deficiency based on clinical and biochemical findings.