Screening and clinical analysis of isovaleric acidemia newborn in Zhejiang province.
10.3785/j.issn.1008-9292.2020.10.02
- Author:
Zhenzhen HU
1
;
Jianbin YANG
1
;
Lingwei HU
1
;
Yunfei ZHAO
2
;
Chao ZHANG
1
;
Rulai YANG
1
;
Xinwen HUANG
1
Author Information
1. Department of Genetics and Metabolism, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, National Regional Medical Center for Children, Hangzhou 310052, China.
2. Department of Pediatrics, Taizhou Matemal and Child Health Hospital, Taizhou 318000, Zhejiang Province, China.
- Publication Type:Journal Article
- Keywords:
Genotype;
IVD gene;
Isovaleric acidemia;
Neonatal screening;
Phenotype;
Prevalence rate;
Tandem mass spectrometry
- MeSH:
Amino Acid Metabolism, Inborn Errors/epidemiology*;
Child;
China/epidemiology*;
Humans;
Infant, Newborn;
Isovaleryl-CoA Dehydrogenase/genetics*;
Mutation;
Neonatal Screening;
Tandem Mass Spectrometry
- From:
Journal of Zhejiang University. Medical sciences
2020;49(5):556-564
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To investigate the incidence,clinical,biochemical and genetic characteristics of isovaleric acidemia (IVA) in Zhejiang province.
METHODS:Between January 2009 and December 2019, a total of 3 510 004 newborns were screened for IVA using tandem mass spectrometry. Patients of IVA were confirmed by urine organic acid and
RESULTS:A total of 15 patients with IVA were diagnosed, with an incidence of 1/234 000. Three patients had acute neonatal IVA, and the rest were asymptomatic. The isovalerylcarnitine (C5) levels were increased in all patients. Twelve children underwent urinary organic acid analysis, of which 11 cases had elevated isovalerylglycine levels, 4 cases with 3-hydroxyisovalerate increased simultaneously. Eleven IVA patients underwent genetic testing, 9 patients were compound heterozygous variants in
CONCLUSIONS:The clinical manifestations of IVA are non-specific, and the gene spectrum is scattered. Newborn patients screened by tandem mass spectrometry can receive early diagnosis and treatment, so as to correct metabolic defects and pathophysiological changes.
