Severe hyperchylomicronemia in two infants with novel APOC2 gene mutation

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Kose E., Armagan C., Kisa P., Onay H., Arslan N.

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

• 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
• Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
• Dokuz Eylül Üniversitesi Adresli: Evet

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.