Research & Literature

Short prolactin profile for monitoring treatment in BH4 deficiency.

Porta F, Ponzone A, Spada M

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2015; (19(3)):360-3.

HPLC for confirmatory diagnosis and biochemical monitoring of Cuban patients with hyperphenylalaninemias.

Contreras J, Alonso E, Fuentes LE

MEDICC review 2015; (17(1)):23-8 doi:10.37757/MR2015.V17.N1.6.

Target Prolactin Range in Treatment of Tetrahydrobiopterin Deficiency.

Porta F, Ponzone A, Spada M

The Journal of pediatrics 2016; (168()):236-239.e1 doi:10.1016/j.jpeds.2015.09.062.

'Malignant Phenylketonuria' (PKU) Due to Dihydropteridine Reductase (DHPR) Deficiency.

Ventzke A, Hoffmann J, Crushell E, et al.

Irish medical journal 2015; (108(10)):312-4.

The neonatal tetrahydrobiopterin loading test in phenylketonuria: what is the predictive value?

Anjema K, Hofstede FC, Bosch AM, et al.

Orphanet journal of rare diseases 2016; (11()):10 doi:10.1186/s13023-016-0394-2.

Pharmacological Chaperones that Protect Tetrahydrobiopterin Dependent Aromatic Amino Acid Hydroxylases Through Different Mechanisms.

Hole M, Jorge-Finnigan A, Underhaug J, et al.

Current drug targets 2016; (17(13)):1515-26 doi:10.2174/1389450117666160307143512.

What Is Not in the Name? Dopa-Responsive Dystonia May Respond to More Than L-Dopa.

Friedman JR

Pediatric neurology 2016; (59()):76-80.

Long-term safety and effectiveness of pramipexole in tetrahydrobiopterin deficiency.

Porta F, Ponzone A, Spada M

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2016; (20(6)):839-842 doi:10.1016/j.ejpn.2016.08.006.

Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability.

Anikster Y, Haack TB, Vilboux T, et al.

American journal of human genetics 2017; (100(2)):257-266 doi:10.1016/j.ajhg.2017.01.002.

Psychological and psychosocial implications for parenting a child with phenylketonuria: a systematic review.

Borghi L, Salvatici E, Riva E, et al.

Minerva pediatrica 2019; (71(2)):181-195 doi:10.23736/S0026-4946.17.04950-7.

Early Screening for Tetrahydrobiopterin Responsiveness in Phenylketonuria.

Porta F, Spada M, Ponzone A

Pediatrics 2017; (140(2)) doi:10.1542/peds.2016-1591.

Massive parallel sequencing as a new diagnostic approach for phenylketonuria and tetrahydrobiopterin-deficiency in Thailand.

Chaiyasap P, Ittiwut C, Srichomthong C, et al.

BMC medical genetics 2017; (18(1)):102 doi:10.1186/s12881-017-0464-x.

[Tetrahydrobiopterin (BH4) deficiency - diagnosis and treatment].

Bókay J

Orvosi hetilap 2017; (158(48)):1897-1902 doi:10.1556/650.2017.30895.

Gene mutation and pedigree analysis of tetrahydrobiopterin deficiency in a Uygur family of China.

Li L, Qin Y, Su Y, et al.

Journal of clinical laboratory analysis 2019; (33(2)):e22665 doi:10.1002/jcla.22665.

Inherited Disorders of Neurotransmitters: Classification and Practical Approaches for Diagnosis and Treatment.

Brennenstuhl H, Jung-Klawitter S, Assmann B, Opladen T

Neuropediatrics 2019; (50(1)):2-14 doi:10.1055/s-0038-1673630.

6-Pyruvoyltetrahydropterin Synthase Deficiency: Review and Report of 28 Arab Subjects.

Almannai M, Felemban R, Saleh MA, et al.

Pediatric neurology 2019; (96()):40-47 doi:10.1016/j.pediatrneurol.2019.02.008.

International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria.

Muntau AC, Adams DJ, Bélanger-Quintana A, et al.

Molecular genetics and metabolism 2019; (127(1)):1-11 doi:10.1016/j.ymgme.2019.04.004.

GTP-Cyclohydrolase I deficiency presenting as malignant hyperphenylalaninemia, recurrent hyperthermia and progressive neurological dysfunction in a South Asian child - a case report.

Dayasiri KC, Suraweera N, Nawarathne D, et al.

BMC pediatrics 2019; (19(1)):199 doi:10.1186/s12887-019-1580-x.

Analysis of Catecholamines and Pterins in Inborn Errors of Monoamine Neurotransmitter Metabolism-From Past to Future.

Jung-Klawitter S, Kuseyri Hübschmann O

Cells 2019; (8(8)) doi:10.3390/cells8080867.

Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies.

Opladen T, López-Laso E, Cortès-Saladelafont E, et al.

Orphanet journal of rare diseases 2020; (15(1)):126 doi:10.1186/s13023-020-01379-8.

Long-term clinical outcome of 6-pyruvoyl-tetrahydropterin synthase-deficient patients.

Manti F, Nardecchia F, Banderali G, et al.

Molecular genetics and metabolism 2020; (131(1-2)):155-162 doi:10.1016/j.ymgme.2020.06.009.

Molecular genetics of phenylketonuria and tetrahydrobiopterin deficiency in Jordan.

Carducci C, Amayreh W, Ababneh H, et al.

JIMD reports 2020; (55(1)):59-67 doi:10.1002/jmd2.12130.

Retrospective analysis of 19 patients with 6-Pyruvoyl Tetrahydropterin Synthase Deficiency: Prolactin levels inversely correlate with growth.

Manzoni F, Salvatici E, Burlina A, et al.

Molecular genetics and metabolism 2020; (131(4)):380-389 doi:10.1016/j.ymgme.2020.11.004.

Guide for diagnosis and treatment of hyperphenylalaninemia.

Shintaku H, Ohura T, Takayanagi M, et al.

Pediatrics international : official journal of the Japan Pediatric Society 2021; (63(1)):8-12 doi:10.1111/ped.14399.

Dopa-responsive dystonia, DRD-plus and DRD look-alike: a pragmatic review.

Cherian A, Paramasivan NK, Divya KP

Acta neurologica Belgica 2021; (121(3)):613-623 doi:10.1007/s13760-020-01574-1.

Birth prevalence of tetrahydrobiopterin deficiency in China: data from the national newborn screening program, 2013-2019.

Yuan X, Zhu J, Liu H, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2021; (34(7)):835-841 doi:10.1515/jpem-2021-0077.

Molecular and metabolic bases of tetrahydrobiopterin (BH4) deficiencies.

Himmelreich N, Blau N, Thöny B

Molecular genetics and metabolism 2021; (133(2)):123-136 doi:10.1016/j.ymgme.2021.04.003.

Tetrahydrobiopterin deficiencies: Lesson from clinical experience.

Bozaci AE, Er E, Yazici H, et al.

JIMD reports 2021; (59(1)):42-51 doi:10.1002/jmd2.12199.

Secondary biogenic amine deficiencies: genetic etiology, therapeutic interventions, and clinical effects.

van Karnebeek CD, Blydt-Hansen I, Matthews AM, et al.

Neurogenetics 2021; (22(4)):251-262 doi:10.1007/s10048-021-00652-7.

The treatment and clinical follow-up outcome in Iranian patients with tetrahydrobiopterin deficiency.

Khani S, Barzegari M, Esmaeilizadeh Z, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2021; (34(9)):1157-1167 doi:10.1515/jpem-2021-0155.

Long-term efficacy and safety of sapropterin in patients who initiated sapropterin at < 4 years of age with phenylketonuria: results of the 3-year extension of the SPARK open-label, multicentre, randomised phase IIIb trial.

Muntau AC, Burlina A, Eyskens F, et al.

Orphanet journal of rare diseases 2021; (16(1)):341 doi:10.1186/s13023-021-01968-1.

Sapropterin dihydrochloride therapy in dihydropteridine reductase deficiency: Insight from the first case with molecular diagnosis in Brazil.

Lourenço CM, Dovidio J, Lopes IF, et al.

JIMD reports 2021; (61(1)):19-24 doi:10.1002/jmd2.12224.

Cerebrospinal Fluid Biogenic Monoamine Analysis for Diagnosis of Primary Neurotransmitter Disorders.

Lokhande RV, Dherai AJ, Bhagure GR, et al.

Indian journal of pediatrics 2021; (88(12)):1241-1243 doi:10.1007/s12098-021-03956-6.

Disorders of Tetrahydrobiopterin Metabolism: Experience from South India.

Ray S, Padmanabha H, Gowda VK, et al.

Metabolic brain disease 2022; (37(3)):743-760 doi:10.1007/s11011-021-00889-z.

Influencing Factors on the Use of Tetrahydrobiopterin in Patients with Phenylketonuria.

Gao H

Evidence-based complementary and alternative medicine : eCAM 2022; (2022()):5245200 doi:10.1155/2022/5245200.

Dihydropyridine Reductase Deficiency: Acute Encephalopathy Related to Folinic Acid Treatment Interruption in a Girl.

Pappalardo MG, Di Nora A, Giugno A, et al.

Global medical genetics 2022; (9(3)):247-251 doi:10.1055/s-0042-1756661.

Genotypic spectrum underlying tetrahydrobiopterin metabolism defects: Experience in a single Mexican reference center.

Vela-Amieva M, Alcántara-Ortigoza MA, Ibarra-González I, et al.

Frontiers in genetics 2022; (13()):993612 doi:10.3389/fgene.2022.993612.

Developmental delay and non-phenylketonuria (PKU) hyperphenylalaninemia in DNAJC12 deficiency: Case and approach.

Wong RSH, Mohammad S, Parayil Sankaran B, et al.

Brain & development 2023; (45(9)):523-531 doi:10.1016/j.braindev.2023.04.004.

Biochemical and molecular features of tetrahydrobiopterin deficiency in Fujian Province, southeastern China.

Qiu X, Zhao P, Luo J, et al.

Frontiers in genetics 2023; (14()):1250568 doi:10.3389/fgene.2023.1250568.

Late-onset symptomatic hyperprolactinemia in 6-pyruvoyl-tetrahydropterin synthase deficiency.

Hsu RH, Lee NC, Chen HA, et al.

Orphanet journal of rare diseases 2023; (18(1)):351 doi:10.1186/s13023-023-02963-4.

Genotype characterization of tetrahydrobiopterin deficiency in two Tibetan children.

Zhu S, Hu Q, Yang Y, et al.

Heliyon 2024; (10(5)):e27050 doi:10.1016/j.heliyon.2024.e27050.

Predictive value of fluorometric method and tandem mass spectrometry for hyperphenylalaninemia and its subtypes in China: A systematic review and meta‑analysis.

Shang Z, Xie P, Pan K, et al.

Experimental and therapeutic medicine 2024; (28(1)):278 doi:10.3892/etm.2024.12566.

The metabolic landscape of tetrahydrobiopterin metabolism disorders in the Republic of Ireland.

Fisher A, Boruah R, Mayne PD, et al.

Molecular genetics and metabolism reports 2025; (42()):101185 doi:10.1016/j.ymgmr.2024.101185.

International Survey on Phenylketonuria Newborn Screening.

Trampuž D, Schielen PCJI, Zetterström RH, et al.

International journal of neonatal screening 2025; (11(1)) doi:10.3390/ijns11010018.

Clinical, Biochemical, and Radiologic Profiles of Filipino Patients with 6-Pyruvoyl-Tetrahydrobiopterin Synthase (6-PTPS) Deficiency and their Neurodevelopmental Outcomes.

de Castro-Hamoy LG, Moral MALA, Calotes-Castillo LV, et al.

Acta medica Philippina 2025; (59(3)):39-44 doi:10.47895/amp.vi0.9439.

Age-Dependent Variation in Blood Biopterin Peaks Following Oral Tetrahydrobiopterin Administration in Phenylketonuria.

Kitayama K, Sakaguchi T, Nakano N, et al.

Journal of inherited metabolic disease 2026; (49(2)):e70154 doi:10.1002/jimd.70154.

Sepiapterin: From sapropterin to next-generation therapy.

Blau N

Molecular genetics and metabolism 2026; (148(3)):110110 doi:10.1016/j.ymgme.2026.110110.

Molecular Genetic and Biochemical Characterization of Hyperphenylalaninemia Based on Expanded Neonatal Screening Data from 2023 to 2024 in the Russian Federation.

Lotnik EE, Chukhrova AL, Ryadninskaya NV, et al.

International journal of molecular sciences 2026; (27(12)) doi:10.3390/ijms27125597.

Prolactinoma Associated with L-Dopa-Resistant Hyperprolactinemia in a Child with Tetrahydropterin (BH4) Deficiency.

Özgüç Çömlek F, Yaşar Köstek H, Dilek E, et al.

Journal of clinical research in pediatric endocrinology 2026; doi:10.4274/jcrpe.galenos.2026.2026-1-7.

DNAJC12 Stabilizes Phenylalanine Hydroxylase and Facilitates Its Substrate-Dependent Activation.

Tai MDS, Kråkenes TA, Gamiz-Arco G, et al.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2026; (40(14)):e72151 doi:10.1096/fj.202504522RR.

Follow-up and outcome of patients with primary BH4 deficiencies.

Nardecchia F, Manti F, De Giorgi A, et al.

Frontiers in neurology 2026; (17()):1793300 doi:10.3389/fneur.2026.1793300.