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Page 1
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies.
Opladen T, López-Laso E, Cortès-Saladelafont E, Pearson TS, Sivri HS, Yildiz Y, Assmann B, Kurian MA, Leuzzi V, Heales S, Pope S, Porta F, García-Cazorla A, Honzík T, Pons R, Regal L, Goez H, Artuch R, Hoffmann GF, Horvath G, Thöny B, Scholl-Bürgi S, Burlina A, Verbeek MM, Mastrangelo M, Friedman J, Wassenberg T, Jeltsch K, Kulhánek J, Kuseyri Hübschmann O; International Working Group on Neurotransmitter related Disorders (iNTD). Opladen T, et al. Orphanet J Rare Dis. 2020 May 26;15(1):126. doi: 10.1186/s13023-020-01379-8. Orphanet J Rare Dis. 2020. PMID: 32456656 Free PMC article. Review.
Results of neonatal screening for congenital hypothyroidism and hyperphenylalaninemia in Zhejiang province from 1999 to 2022.
Zhou D, Yang R, Huang X, Huang X, Yang X, Mao H, Yang J, Zhao Z. Zhou D, et al. Zhejiang Da Xue Xue Bao Yi Xue Ban. 2023 Dec 16;52(6):683-692. doi: 10.3724/zdxbyxb-2023-0473. Zhejiang Da Xue Xue Bao Yi Xue Ban. 2023. PMID: 38105685 Free PMC article. Chinese, English.
A total of 563 cases of HPA were diagnosed, including 508 cases of classic phenylketonuria (cPKU) and 55 cases of tetrahydrobiopterin deficiency (BH4D), with an incidence rate of 1/21 176. Ninety-seven out of 8924 cases of CH underwent genetic analysis. ...A total o …
A total of 563 cases of HPA were diagnosed, including 508 cases of classic phenylketonuria (cPKU) and 55 cases of tetrahydrobiopterin …
Tetrahydrobiopterin deficiency in schizophrenia: Biochemical and clinical aspects.
Zhilyaeva TV, Kasyanov ED, Semennov IV, Rukavishnikov GV, Piatoikina AS, Kostina OV, Verbitskaya EV, Mazo GE. Zhilyaeva TV, et al. J Psychiatr Res. 2022 Sep;153:141-148. doi: 10.1016/j.jpsychires.2022.07.020. Epub 2022 Jul 6. J Psychiatr Res. 2022. PMID: 35816973
It was reported that the levels of tetrahydrobiopterin (BH4) are reduced in schizophrenia. However, mechanisms of BH4 deficiency in schizophrenia had not been studied precisely. OBJECTIVE: the search of the association between BH4 deficiency in schizop …
It was reported that the levels of tetrahydrobiopterin (BH4) are reduced in schizophrenia. However, mechanisms of BH4 deficiency …
6-Pyruvoyltetrahydropterin Synthase Deficiency: Review and Report of 28 Arab Subjects.
Almannai M, Felemban R, Saleh MA, Faqeih EA, Alasmari A, AlHashem A, Mohamed S, Sunbul R, Al-Murshedi F, AlThihli K, Eyaid W, Ali R, Ben-Omran T, Blau N, El-Hattab AW, Alfadhel M. Almannai M, et al. Pediatr Neurol. 2019 Jul;96:40-47. doi: 10.1016/j.pediatrneurol.2019.02.008. Epub 2019 Feb 18. Pediatr Neurol. 2019. PMID: 30926181 Free article. Review.
BACKGROUND: Tetrahydrobiopterin is an essential cofactor for the hydroxylation of aromatic amino acids phenylalanine, tyrosine, and tryptophan. Therefore, tetrahydrobiopterin deficiency results in hyperphenylalaninemia as well as dopamine and serotonin depletion in …
BACKGROUND: Tetrahydrobiopterin is an essential cofactor for the hydroxylation of aromatic amino acids phenylalanine, tyrosine, and tryptoph …
Tetrahydrobiopterin deficiency in the pathogenesis of Fabry disease.
Shen JS, Arning E, West ML, Day TS, Chen S, Meng XL, Forni S, McNeill N, Goker-Alpan O, Wang X, Ashcraft P, Moore DF, Cheng SH, Schiffmann R, Bottiglieri T. Shen JS, et al. Hum Mol Genet. 2017 Mar 15;26(6):1182-1192. doi: 10.1093/hmg/ddx032. Hum Mol Genet. 2017. PMID: 28158561
Gb3 levels were inversely correlated with BH4 levels in animal tissues and cultured patient cells. To investigate the role of BH4 deficiency in disease phenotypes, 12-month-old Fabry mice were treated with gene transfer-mediated ERT or substrate reduction therapy (S …
Gb3 levels were inversely correlated with BH4 levels in animal tissues and cultured patient cells. To investigate the role of BH4 …
Tetrahydrobiopterin synthesis and metabolism is impaired in dystrophin-deficient mdx mice and humans.
Lindsay A, Kemp B, Larson AA, Baumann CW, McCourt PM, Holm J, Karachunski P, Lowe DA, Ervasti JM. Lindsay A, et al. Acta Physiol (Oxf). 2021 Apr;231(4):e13627. doi: 10.1111/apha.13627. Epub 2021 Mar 8. Acta Physiol (Oxf). 2021. PMID: 33580591
Mdx mice and Duchenne muscular dystrophy patients did not increase tetrahydrobiopterin during exercise and in mdx mice tetrahydrobiopterin deficiency was likely because of lower levels of sepiapterin reductase in skeletal muscle. ...
Mdx mice and Duchenne muscular dystrophy patients did not increase tetrahydrobiopterin during exercise and in mdx mice tetrahydrobiopteri …
Molecular genetics of tetrahydrobiopterin deficiency in Chinese patients.
Li N, Yu P, Rao B, Deng Y, Guo Y, Huang Y, Ding L, Zhu J, Yang H, Wang J, Guo J, Chen F, Liu Z. Li N, et al. J Pediatr Endocrinol Metab. 2018 Aug 28;31(8):911-916. doi: 10.1515/jpem-2018-0037. J Pediatr Endocrinol Metab. 2018. PMID: 30001213
Background The overall incidence of hyperphenylalaninemia (HPA) in China is 1:11,763, with tetrahydrobiopterin (BH4) deficiency accounting for 8.55% of patients with HPA in the mainland. Much progress has been made in the diagnosis and treatment of BH4 def …
Background The overall incidence of hyperphenylalaninemia (HPA) in China is 1:11,763, with tetrahydrobiopterin (BH4) deficiency …
An Overview of Traditional and Novel Therapeutic Options for the Management of Phenylketonuria.
Wasim M, Awan FR, Khan HN, Ayesha H. Wasim M, et al. Crit Rev Eukaryot Gene Expr. 2018;28(2):177-185. doi: 10.1615/CritRevEukaryotGeneExpr.2018023073. Crit Rev Eukaryot Gene Expr. 2018. PMID: 30055544 Review.
About 98% of PKU patients have mutations in the PAH, while the remaining have BH4 deficiency. If PKU is diagnosed earlier in life using advance analytical techniques (e.g., high performance liquid chromatography, mass spectrometry, and polymerase chain reaction), th …
About 98% of PKU patients have mutations in the PAH, while the remaining have BH4 deficiency. If PKU is diagnosed earlier in l …
46 results