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.
Artigo
em Inglês
| WPRIM
| ID: wpr-880581
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Carnitina
/
Hiperamonemia
/
Membro 5 da Família 22 de Carreadores de Soluto
/
Doenças Musculares
/
Mutação
/
Cardiomiopatias
Tipo de estudo:
Estudo de rastreamento
Limite:
Criança
/
Humanos
/
Recém-Nascido
Idioma:
Inglês
Revista:
Journal of Central South University(Medical Sciences)
Ano de publicação:
2020
Tipo de documento:
Artigo
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