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The Treatment and Clinical Follow-Up Outcome in Iranian Patients With Tetrahydrobiopterin Deficiency Publisher Pubmed



Khani S1 ; Barzegari M1 ; Esmaeilizadeh Z1 ; Farsian P1 ; Alaei M2 ; Salehpour S3 ; Setoodeh A4 ; Rohani F5 ; Samavat A6 ; Zekri A7 ; Mirzazadeh R1 ; Sadeghi S1 ; Khatami S1
Authors
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Authors Affiliations
  1. 1. Department of Biochemistry, Pasteur Institute of Iran, Pasteur Street, No. 69, Tehran, 1316943551, Iran
  2. 2. Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran
  3. 3. Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran
  4. 4. Growth and Development Research Center, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran
  5. 5. Department of Pediatrics Endocrinology and Metabolism, Ali Asghar Children's Hospital, Iran University of Medical Sciences, Tehran, Iran
  6. 6. Genetics Office, CDC, Ministry of Health of Iran, Tehran, Iran
  7. 7. Department of Medical Genetics and Molecular Biology, Faculty of Medicine, Iran University of Medical Sciences, Tehran, Iran

Source: Journal of Pediatric Endocrinology and Metabolism Published:2021


Abstract

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. 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. 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. 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. © 2021 Walter de Gruyter GmbH, Berlin/Boston.
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