Screening and clinical analysis of isovaleric acidemia newborn in Zhejiang province / 浙江大学学报·医学版
Journal of Zhejiang University. Medical sciences
;
(6): 556-564, 2020.
Artículo
en Chino
| WPRIM
| ID: wpr-879912
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.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
China
/
Tamizaje Neonatal
/
Isovaleril-CoA Deshidrogenasa
/
Espectrometría de Masas en Tándem
/
Errores Innatos del Metabolismo de los Aminoácidos
/
Mutación
Tipo de estudio:
Estudio diagnóstico
/
Estudio de tamizaje
Límite:
Niño
/
Humanos
/
Recién Nacido
País/Región como asunto:
Asia
Idioma:
Chino
Revista:
Journal of Zhejiang University. Medical sciences
Año:
2020
Tipo del documento:
Artículo
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