Novel <italic>MTTP</italic> Gene Mutation in a Case of Abetalipoproteinemia with Central Hypothyroidism

• Main Authors: Pembe Soylu Ustkoyuncu (Author), Songül Gokay (Author), Esra Eren (Author), Durmus Dogan (Author), Gokce Yıldız (Author), Aysegul Yılmaz (Author), Fatma Turkan Mutlu (Author)
• Format: Book
• Published: Galenos Yayincilik, 2020-12-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abetalipoproteinaemia (ABL) is an autosomal recessive disorder characterized by very low plasma concentrations of total cholesterol and triglyceride (TG). It results from mutations in the gene encoding microsomal TG transfer protein (MTTP). A nine-month-old girl was admitted to hospital because of f...