Dihydropteridine reductase (DHPR) deficiency (OMIM: 261630) is an autosomal recessive disorder in the regeneration pathway of tetrahydrobiopterin (BH4). Individuals with DHPR …

2021年6月1日 · Regeneration of BH 4 requires pterin-4a-carbinolamine hydratase (PCD; E.C. 4.2.1.96) and dihydropteridine reductase (DHPR; E.C. 1.6.99.7). PCD is also known as …

BH4 deficiency has been diagnosed in patients with hyperphenylalaninemia (HPA) by neonatal mass-screening based on BH4 oral loading tests, analysis of urinary or serum pteridines, and …

Dihydropteridine reductase deficiency (DHPR) is a severe form of hyperphenylalaninemia (high levels of the amino acid phenylalanine in the blood) due to impaired renewal of a substance …

2020年4月13日 · 尿蝶呤谱分析 是目前国内诊断 BH4 缺乏症的重要方法。 采用高效液相色谱分析法，测定新蝶呤 (neopterin，N)、生物蝶呤 (biopterin，B) 浓度，并计算生物蝶呤比例 B％[B/ …

Dihydropteridine reductase deficiency (DHPRD) is a genetic disorder affecting the tetrahydrobiopterin (BH4) synthesis pathway, inherited in the autosomal recessive pattern. It is …

Tetrahydrobiopterin (BH 4) deficiency is caused by genetic variants in the three genes involved in de novo cofactor biosynthesis, GTP cyclohydrolase I (GTPCH/GCH1), 6-pyruvoyl …

DHPR deficiency is caused by variants in the QDPR gene, which encodes quinoid dihydropteridine reductase involved in the second step of BH4 regeneration. BH4 is an …

Dihydropteridine reductase (DHPR) deficiency is a genetic disorder of tetrahydrobiopterin (BH4) regeneration and may present with hyperphenylalaninemia, microcephaly, hypotonia, mental …

2020年5月26日 · Hyperphenylalaninemia (HPA) is the first diagnostic hallmark for most BH4 deficiencies, apart from autosomal dominant guanosine triphosphate cyclohydrolase I …