Newborn Screening for Metabolic and Sickle Cell Disorders Program

Carnitine Uptake Defect
(Group of disorders including CPT I, II, translocase)

Incidence: 1 in 40,000

Parent & Provider fact sheets provide general information about the disorder.**

ACT Sheet: immediate steps for physicians to take upon receiving a positive screen for an infant in his or her practice.**

Newborn Screening Follow-Up:

Emory University School of Medicine, Department of Human Genetics

Newborn Screening Follow-up Program: (404) 778-8560

Metabolic Nutritionist: (404) 785-6000

Geneticist-on-Call (pager for nights and weekends): (404) 785-6000

Other Resources:

Online Mendelian Inheritance in Man: textual information, references, links to MEDLINE, and links to related resources at the National Center for Biotechnology Information.

Save Babies Through Screening Foundation, Inc.

March of Dimes

**This information is provided for the families and physicians of children newly identified with, or at an increased risk for, a metabolic condition as determined by the Georgia Newborn Screening Program. The links provided are to information from recognized and trusted sources. It is however, important to note that this content is NOT a substitute for professional medical advice, diagnosis or treatment.

<<BACK