The treatment and clinical follow-up outcome in Iranian patients with tetrahydrobiopterin deficiency
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Soghra Khani
Abstract
Objectives
This study aimed to evaluate the biochemical factors, genetic mutations, outcome of treatment, and clinical follow-up data of Iranian patients with tetrahydrobiopterin (BH4) deficiency from April/2016 to March/2020.
Methods
Forty-seven BH4 deficiency patients were included in the study and underwent biochemical and genetic analyses. The clinical outcomes of the patients were evaluated after long-term treatment.
Results
Out of the 47 (25 females and 22 males) BH4 deficiency patients enrolled in the study, 23 were Dihydropteridine reductase (DHPR) deficient patients, 23 were 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficient patients, and one was GTP-Cyclohydrolase 1 deficiency (GTPCH-1) patient. No clinical symptoms were observed in 10 of the DHPR deficient patients (before and after the treatment). Also, most patients diagnosed at an early age had a proper response to the treatment. However, drug therapy did not improve clinical symptoms in three of the patients diagnosed at the age of over 10 years. Also, 16 PTPS deficiency patients who were detected within 6 months and received treatment no clinical symptoms were presented. One of the patients was detected with GTPCH deficiency. Despite being treated with BH4, this patient suffered from a seizure, movement disorder, mental retardation, speech difficulty, and hypotonia.
Conclusions
The study results showed that neonatal screening should be carried out in all patients with hyperphenylalaninemia because early diagnosis and treatment can reduce symptoms and prevent neurological impairments. Although the BH4 deficiency outcomes are highly variable, early diagnosis and treatment in the first months of life are crucial for good outcomes.
Funding source: Ministry of Health of Iran
Acknowledgment
The authors are thankful to the patients for consenting to participate in this study and the study teams at the Pasture Institute of Iran.
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Research funding: This study was supported financially by a research grant from the Ministry of Health of Iran.
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Author contributions: Soghra Khani, Mina Barzegari, Zahra Esmaeilizadeh, Pantea Farsian, Roghieh Mirzazadeh, Sedigheh Sadeghi: contributed to the setup and performing of the tests. Mohammadreza Alaei, Shadab Salehpour, Aria Setoodeh, Farzaneh Rohani, Ashraf Samavat: contributed as members of the PKU national scientific committee and introduced patients for sample gathering. Ali Zekri: contributed to the genetic study. Shohreh Khatami: contributed to the planning, conducting, and reporting of the BH4 screening tests described in the article.
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Competing interests: Authors state no conflict of interest.
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Informed consent: Informed consent was obtained from all individuals included in this study.
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Ethical approval: The local Institutional Review Board deemed the study exempt from review.
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© 2021 Walter de Gruyter GmbH, Berlin/Boston
Artikel in diesem Heft
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Artikel in diesem Heft
- Frontmatter
- Review Article
- Effects of aerobic exercise on obese children with metabolic syndrome: a systematic review and meta-analysis
- Original Articles
- Evaluation of clinical, endocrine and metabolic findings in obese children with and without hepatosteatosis
- Anxiety, depression, and glycemic control during Covid-19 pandemic in youths with type 1 diabetes
- Monogenic diabetes in Pakistani infants and children: challenges in a resource poor country
- Hereditary hypophosphatemic rickets and craniosynostosis
- Acromesomelic dysplasia-Maroteaux type, nine patients with two novel NPR2 variants
- The presentation of congenital adrenal hyperplasia in an unscreened population
- Presenting status of children with classical congenital adrenal hyperplasia over two decades (1999–2018) in the absence of newborn screening in Sri Lanka
- Diagnostic re-evaluation and predictors of congenital hypothyroidism with eutopic thyroid gland in Jiangxi, China
- Neonatal maple syrup urine disease in China: two novel mutations in the BCKDHB gene and literature review
- The treatment and clinical follow-up outcome in Iranian patients with tetrahydrobiopterin deficiency
- Retrospective evaluation of patients with X-linked adrenoleukodystrophy with a wide range of clinical presentations: a single center experience
- Short Communication
- Growth hormone treatment and bone mineral density in pediatric patients with Prader–Willi syndrome
- Case Reports
- SLC35A2-CDG: novel variants with two ends of the spectrum
- Genome analyses and androgen quantification for an infant with 5α-reductase type 2 deficiency
- Neurological and gastrointestinal symptoms as an initial presentation of pediatric thyroid storm: report of three cases
- Rapid molecular diagnosis of ALB gene variants prevents unnecessary interventions in familial dysalbuminemic hyperthyroxinemia
- MAN1B1-CDG: novel patients and novel variant
