A novel mutation leading to the lethal form of carnitine palmitoyltransferase type-2 deficiency


Dorum S., Varal I. G. , Gorukmez O., Dogan P., Ekici A.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, vol.32, no.7, pp.781-783, 2019 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 32 Issue: 7
  • Publication Date: 2019
  • Doi Number: 10.1515/jpem-2019-0038
  • Title of Journal : JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Page Numbers: pp.781-783

Abstract

Background: The clinical phenotypes of carnitine palmitoyltransferase type-2 deficiency (CPT2D) are classified into lethal neonatal, severe infantile and muscle forms. The rarest form is the lethal neonatal form.