Pyruvate carboxylase deficiency type C as a differential diagnosis of diabetic ketoacidosis
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.34, sa.7, ss.947-950, 2021 (SCI-Expanded, Scopus)
- 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.