[Screening results and genetic analysis of neonatal tetrahydrobiopterin deficiency in Hainan Province from 2007 to 2019].
Zhonghua Yi Xue Za Zhi
; 101(38): 3161-3163, 2021 Oct 19.
Article
in Zh
| MEDLINE
| ID: mdl-34674428
ABSTRACT
A total of 1 295 516 dried blood spots were collected from newborns in Hainan Province from 2007 to 2019 who participated in the screening of neonatal diseases, and 43 cases of hyperphenylalaninemia were diagnosed. Among the 43 cases, 8 cases were confirmed to have tetrahydrobiopterin deficiency (4 males and 4 females). The incidence of tetrahydrobiopterin deficiency among newborns in Hainan Province was 6.2/1 million. Six mutations in the PTS gene were detected among 7 cases; the mutations were as follows c.317C>T, c.286G>A, c.259C>T, c.155A>G, c.84+291A>G and c.83+1777T>G. A homozygous mutation at c.41T>C site of QDPR gene was detected in one case. Overall, it's found that the incidence of tetrahydrobiopterin deficiency in newborn populations in Hainan Province is low, and PTS gene mutations account for the largest proportion of cases of tetrahydrobiopterin deficiency within the study population.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Phenylketonurias
Type of study:
Diagnostic_studies
/
Incidence_studies
/
Prognostic_studies
/
Screening_studies
Limits:
Female
/
Humans
/
Male
/
Newborn
Language:
Zh
Journal:
Zhonghua Yi Xue Za Zhi
Year:
2021
Document type:
Article
Affiliation country:
China