Biochemical and genetic characteristics of 40 neonates with carnitine deficiency / 中南大学学报(医学版)
Journal of Central South University(Medical Sciences)
; (12): 1164-1171, 2020.
Article
Dans En
| WPRIM
| ID: wpr-880581
Responsable en Bibliothèque :
WPRO
ABSTRACT
OBJECTIVES@#Primary carnitine deficiency (PCD) is a rare fatty acid metabolism disorder that can cause neonatal death. This study aims to analyze carnitine levels and detect SLC22A5 gene in newborns with carnitine deficiency, to provide a basis for early diagnosis of PCD, and to explore the relationship between carnitine in blood and SLC22A5 genotype.@*METHODS@#A total of 40 neonates with low free carnitine (C0G (p.Y251C), c.495 C>A (p.R165E), and c.1298T>C (p.M433T). We found 14 PCD patients including 2 homozygous mutations and 12 heterozygous mutations, 14 with 1 mutation, and 12 with no mutation among 40 children. The C0 concentration of children with SLC22A5 gene homozygous or complex heterozygous mutations was (4.95±1.62) μmol/L in the initial screening, and (3.90±1.33) μmol/L in the second screening. The C0 concentration of children with no mutation was (7.04±2.05) μmol/L in the initial screening, and (8.02±2.87) μmol/L in the second screening. There were significant differences between children with homozygous or compound heterozygous mutations and with no mutation in C0 concentration of the initial and the second screening (both @*CONCLUSIONS@#There are 5 new mutations which enriched the mutation spectrum of SLC22A5 gene. C0<5 μmol/L is highly correlated with SLC22A5 gene homozygous or compound heterozygous mutations. Children with truncated mutation may have lower C0 concentration than that with untruncated mutation in the initial screening.
Texte intégral:
1
Indice:
WPRIM
Sujet Principal:
Carnitine
/
Hyperammoniémie
/
Membre-5 de la famille-22 de transporteurs de solutés
/
Maladies musculaires
/
Mutation
/
Cardiomyopathies
Type d'étude:
Screening_studies
Limites du sujet:
Child
/
Humans
/
Newborn
langue:
En
Texte intégral:
Journal of Central South University(Medical Sciences)
Année:
2020
Type:
Article