Severe hyperchylomicronemia in two infants with novel APOC2 gene mutation

Kose E., ARMAĞAN C., Teke Klsa P., Onay H., Arslan N.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.31, sa.11, ss.1289-1293, 2018 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 31 Sayı: 11
  • Basım Tarihi: 2018
  • Doi Numarası: 10.1515/jpem-2018-0280
  • Dergi Adı: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.1289-1293
  • Anahtar Kelimeler: APOC2 gene, familial apo C-II deficiency, hyperchylomicronemia, infant, novel mutation, APOLIPOPROTEIN-C-II, LIPOPROTEIN-LIPASE DEFICIENCY, HYPERTRIGLYCERIDEMIA
  • Ankara Üniversitesi Adresli: Hayır

Özet

Background: Familial apo C-II deficiency is a rare hereditary disorder frequently caused by lipoprotein lipase (LPL) and APOC2 gene mutations. To date, less than 30 patients with familial apo C-II deficiency with 24 different mutations have been identified in the literature. Here, we describe two familial chylomicronemia syndrome cases in infants with two novel mutations of the APOC2 gene.