Screening,diagnosis and treatment of primary carnitine deficiency
- Author:
Ru-lai YANG
1
;
Fan TONG
1
;
Jing ZHENG
1
Author Information
- Publication Type:Journal Article
- Keywords: fatty acid oxidation disorders; primary carnitine deficiency; newborn screening; diagnosis; treatment
- From: Chinese Journal of Practical Pediatrics 2019;34(01):14-18
- CountryChina
- Language:Chinese
- Abstract: Primary carnitine deficiency is an autosomal recessive hereditary disease caused by the mutation of SLC22 A5 gene,which leads to increased carnitine excretion in urine and low level of carnitine in blood,tissues and cells. Due to the heterogeneity and non-specificity of the clinical manifestations of PCD,it is easy to be misdiagnosed or missed and it is potentially fatal without timely treatment. This disease can be detected early through the newborn screening. Maternal carnitine deficiency and the secondary carnitine deficiency caused by other diseases should be excluded. Genetic test can give a clear diagnosis. Avoiding hunger and use of oral L-carnitine supplementation to maintain normal plasma carnitine concentrations are effective treatments.
