ArticleJIMD reports2021
Tetrahydrobiopterin deficiencies: Lesson from clinical experience.
Article in JIMD reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 2 of them syntheses that pooled it.
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Who cites it
16 citing papers in PubMed, 2 syntheses or guidelines pooled it, 14 citations in OpenAlex.
- Autosomal Recessive Guanosine Triphosphate Cyclohydrolase I Deficiency: Redefining the Phenotypic Spectrum and Outcomes.Movement disorders clinical practice · 2024Pooled it
- Follow-up and outcome of patients with primary BH4 deficiencies.Frontiers in neurologyPooled it
- Optimization and Validation of Plasma-Based Assay for Detection and Quantification of Monoamine Neurotransmitter Metabolites Using LC-MS/MS.ACS omega · 2026Article
- Burden and severity of inherited monoamine neurotransmitter rare genetic disorders in India.Orphanet journal of rare diseases · 2026Review
- Myoclonus in Pediatric Metabolic Diseases: Clinical Spectrum, Mechanisms, and Treatable Causes-A Systematic Review.Metabolites · 2026Review
- Inborn Errors of Amino Acid Metabolism Revisited: Clinical Implications and Insights into Current Therapies.Journal of clinical medicine · 2025Review
- The metabolic landscape of tetrahydrobiopterin metabolism disorders in the Republic of Ireland.Molecular genetics and metabolism reports · 2025Article
- L-Dopa Might Be Insufficient to Suppress Development of Prolactinomas in Dihydropteridine Reductase-Deficiency Patients.JCEM case reports · 2024Article
- Pterin Profiling in Serum, Dried Blood Spot, and Urine Samples Using LC-MS/MS in Patients with Inherited Hyperphenylalaninemia.Molecular syndromology · 2024Article
- Delays in Newborn Screening for Phenylketonuria from Birth to Diagnosis and Factors Affecting This.Children (Basel, Switzerland) · 2024Article
- Gene therapy for neurotransmitter-related disorders.Journal of inherited metabolic disease · 2024Review
- Two Cases of 6-Pyruvoyl Tetrahydropterin Synthase Deficiency: Case Report and Literature Review.Children (Basel, Switzerland) · 2023Article
- In Silico Investigation of the Human GTP Cyclohydrolase 1 Enzyme Reveals the Potential of Drug Repurposing Approaches towards the Discovery of Effective BHInternational journal of molecular sciences · 2023Article
- Dihydropyridine Reductase Deficiency: Acute Encephalopathy Related to Folinic Acid Treatment Interruption in a Girl.Global medical genetics · 2022Article
- Genotypic spectrum underlying tetrahydrobiopterin metabolism defects: Experience in a single Mexican reference center.Frontiers in genetics · 2022Article
- Tetrahydrobiopterin deficiencies: Lesson from clinical experience.JIMD reports · 2021Article
Corrections and comments
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Authors and funding
11 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectivesThe present study describes clinical, biochemical, molecular genetic data, current treatment strategies and follow-up in nine patients with tetrahydrobiopterin (BH4) deficiency due to various inherited genetic defects.
methodsWe analyzed clinical, biochemical, and molecular data of nine patients with suspected BH4 deficiency. All patients were diagnosed at Ege University Faculty of Medicine in Izmir, Turkey and comprised data collected from 2006 to 2019. The diagnostic laboratory examinations included blood phenylalanine and urinary or plasma pterins, dihydropteridine reductase (DHPR) enzyme activity measurement in dried blood spots, folic acid and monoamine neurotransmitter metabolites in cerebrospinal fluid, as well as DNA sequencing.
resultsAmong the nine patients, we identified one with autosomal recessive GTP cyclohydrolase I (ar GTPCH) deficiency, two with 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency, three with sepiapterin reductase (SR) deficiency, and three with DHPR deficiency. Similar to previous observations, the most common clinical symptoms are developmental delay, intellectual disability, and movement disorders. All patients received treatment with l-dopa and 5-hydroxytryptophan, while only the ar GTPCH, the PTPS, and one DHPR deficient patients were supplemented in addition with BH4. The recommended dose range varies among patients and depends on the type of disease. The consequences of BH4 deficiencies are quite variable; however, early diagnosis and treatment will improve outcomes.
conclusionsAs BH4 deficiencies are rare group of treatable neurometabolic disorders, it is essential to diagnose the underlying (genetic) defect in newborns with hyperphenylalaninemia. Irreversible brain damage and progressive neurological deterioration may occur in untreated or late diagnosed patients. Prognosis could be satisfying in the cases with early diagnose and treatment.
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