scholarly journals Hyperphenylalaninemia due to tetrahydrobiopterin deficiency

2020 ◽  
Author(s):  
Keyword(s):  
Tetrahydrobiopterin Deficiency

scholarly journals Birth prevalence of tetrahydrobiopterin deficiency in China: data from the national newborn screening program, 2013–2019

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Xuelian Yuan ◽  
Jun Zhu ◽  
Hanmin Liu ◽  
Liangcheng Xiang ◽  
Yongna Yao ◽  
...  
Keyword(s):  
Screening Program ◽  
National Level ◽  
Recall Rate ◽  
Birth Prevalence ◽  
Live Births ◽  
Provincial Level ◽  
Tetrahydrobiopterin Deficiency ◽  
Total Prevalence ◽  
Entire Country ◽  
Northern Regions

Abstract Background Tetrahydrobiopterin deficiency (BH4D), a less common form of hyperphenylalaninemia (HPA), can lead to severe developmental retardation if untreated. Little has been reported on the prevalence of BH4D among live births worldwide. This study examined its prevalence across China and between geographical areas within the country. Methods We analyzed data from the Chinese national screening program for HPA in newborns between 2013 and 2019. BH4D prevalence was examined by province, region and the entire country. Provincial-level prevalence was estimated from the number of confirmed BH4D cases and screened newborns, after adjusting for HPA-positive recall rate. Regional- and national-level prevalences were estimated by summing provincial-level prevalences after weighting them by the number of live births. A Poisson distribution was assumed in order to calculate 95% confidence intervals (CIs) for prevalence. Results Among 107,078,115 newborns screened for HPA in China, 380 with BH4D were identified, corresponding to a total prevalence of 3.8 per 1,000,000 live births. Prevalence was higher in eastern regions (5.9 per 1,000,000) and northern regions (4.1 per 1,000,000) of China than in southern regions (1.6 per 1,000,000) or northwestern regions (1.7 per 1,000,000). Across the entire country, 3.9% cases of HPA were diagnosed as BH4D, and this proportion reached as high as 15.1% in the southern part of the country. Conclusions These first insights into BH4D prevalence across China suggest slightly higher prevalence than in other countries, and it varies substantially by region. More attention should be paid to early diagnosis and timely treatment of BH4D.

Experimental Research on a Fetal Treatment for Tetrahydrobiopterin Deficiency

1993 ◽  
pp. 273-276
Author(s):  
Haruo Shintaku ◽  
Tatsuo Nakajima ◽  
Takuji Imamura ◽  
Yoshitomo Sawada ◽  
Gen Isshiki ◽  
...  
Keyword(s):  
Experimental Research ◽  
Tetrahydrobiopterin Deficiency

Reversible parkinsonism following heroin pyrolysate inhalation is associated with tetrahydrobiopterin deficiency

2004 ◽  
Vol 19 (10) ◽  
pp. 1248-1251 ◽  
Author(s):  
Simon Heales ◽  
Francesca Crawley ◽  
Peter Rudge
Keyword(s):  
Tetrahydrobiopterin Deficiency

Early Diagnosis of 6-Pyruvoyl-tetrahydropterin Synthase Deficiency

Pteridines ◽  
1994 ◽  
Vol 5 (1) ◽  
pp. 18-27 ◽  
Author(s):  
Haruo Shintaku
Keyword(s):  
Early Diagnosis ◽  
Early Treatment ◽  
Healthy Subjects ◽  
Family Members ◽  
Neurological Injury ◽  
Tetrahydrobiopterin Deficiency ◽  
Urinary Levels ◽  
The Mean ◽  
Neurotransmitter Precursors ◽  
Prompt Diagnosis

Summary 6-Pyruvoyl-tetrahydropterin synthase (PTPS) deficiency, which used to be called dihydrobiopterin synthase deficiency, is the most common kind of tetrahydrobiopterin deficiency. Early treatment by administration of tetrahydrobiopterin and neurotransmitter precursors helps to prevent neurological injury, so prompt diagnosis of neonates with hyperphenylalaninemia discovered by screening for phenylketonuria is necessary. Three patients with PTPS deficiency were diagnosed by pteridine analysis. All patients had low biopterin and high neopterin levels in the urine, resulting in a neopterin to biopterin ratio (N/B)much higher than that of age-matched controls. The mean NIB in the parents of these patients was twice that of healthy unrelated adults. PTPS activity was measured in one of these patients with PTPS deficiency and in his family members; the patient was homozygous and his parents were heterozygous for PTPS deficiency. This result meant that N/Bcould be used as an index of PTPS activity. In healthy subjects studied cross-sectionally, urinary levels of pteridine decreased in groups of increasing age, and the same change was found in subjects with hyperphenylalaninemia studied cross-sectionally. Thus, pteridine values of patients can be compared meaningfully only with age-matched controls. The urinary N/Bis useful for the diagnosis of homozygotes and heterozygotes for PTPS deficiency.

Problems in the diagnosis of tetrahydrobiopterin deficiency

1988 ◽  
Vol 147 (3) ◽  
pp. 332-335 ◽  
Author(s):  
J. L. Dhondt ◽  
M. Meyer ◽  
G. Malpuech
Keyword(s):  
Tetrahydrobiopterin Deficiency
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