Screening,diagnosis and treatment of primary carnitine deficiency / 中国实用儿科杂志
Chinese Journal of Practical Pediatrics
; (12): 14-18, 2019.
Article
em Zh
| WPRIM
| ID: wpr-817817
Biblioteca responsável:
WPRO
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.
Texto completo:
1
Índice:
WPRIM
Tipo de estudo:
Diagnostic_studies
/
Screening_studies
Idioma:
Zh
Revista:
Chinese Journal of Practical Pediatrics
Ano de publicação:
2019
Tipo de documento:
Article