Primary Carnitine Deficiency: Is Foetal Development Affected and Can Newborn Screening Be Improved?

ABSTRACT: Primary carnitine deficiency (PCD) causes low levels of carnitine in patients potentially leading to metabolic and cardiac symptoms. Newborn screening for PCD is now routine in many countries by measuring carnitine levels in infants. In this study we report Apgar scores, length and weight in newborns with PCD and newborns born to mothers with PCD compared to controls. Furthermore we report how effective different screening algorithms have been to detect newborns with PCD in the Faroe Islands.

Results

Newborns with PCD and newborns born to mothers with PCD did not differ with regard to Apgar scores, length and weight compared to controls. Newborns with PCD and newborns born to mothers with PCD had significantly lower levels of free carnitine (fC0) than controls. Screening algorithms

SUBMITTER: Rasmussen J 

PROVIDER: S-EPMC5680280 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature