The treatment and clinical follow-up outcome in Iranian patients with tetrahydrobiopterin deficiency.
DHPR deficient
GTPCH deficiency
PTPS deficient
clinical follow-up
hyperphenylalaninemia
tetrahydrobiopterin deficiency
Journal
Journal of pediatric endocrinology & metabolism : JPEM
ISSN: 2191-0251
Titre abrégé: J Pediatr Endocrinol Metab
Pays: Germany
ID NLM: 9508900
Informations de publication
Date de publication:
27 Sep 2021
27 Sep 2021
Historique:
received:
05
03
2021
accepted:
12
05
2021
pubmed:
3
7
2021
medline:
18
1
2022
entrez:
2
7
2021
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 34214291
pii: jpem-2021-0155
doi: 10.1515/jpem-2021-0155
doi:
Substances chimiques
Biopterins
0
sapropterin
EGX657432I
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1157-1167Informations de copyright
© 2021 Walter de Gruyter GmbH, Berlin/Boston.
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