Carnitine PT II Deficiency and Cerebral Dysgenesis

Abstract

A newborn female infant with neonatal lethal multiorgan carnitine palmitoyltransferase II (CPT II) defiency is reported from the Departments of Medicine and Pathology, Children’s Hospital, Boston, MA; and the Department of Pharmacology and Medicine, Case Western Reserve University, VA Medical Center, Cleveland, OH.

Keywords

• carnitine palmitoyltransferase ii
• oligohydramnios
• cranial ultrasound