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
Dans Chinois
| WPRIM
| ID: wpr-817817
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.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Type d'étude:
Etude diagnostique
/
Étude de dépistage
langue:
Chinois
Texte intégral:
Chinese Journal of Practical Pediatrics
Année:
2019
Type:
Article
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