Tyrosinemia Type III: A Case Report with a Seven Years Follow-up
Publish place: International Journal of Pediatrics، Vol: 9، Issue: 6
Publish Year: 1400
نوع سند: مقاله ژورنالی
زبان: English
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شناسه ملی سند علمی:
JR_INJPM-9-6_021
تاریخ نمایه سازی: 17 خرداد 1400
Abstract:
Hereditary tyrosinemia type III (OMIM ۲۷۶۷۱۰) is a rare inborn error of tyrosine metabolism caused by the deficiency of ۴-hydroxyphenylpyruvate dioxygenase (HPD). This metabolic statement is transmitted in an autosomal recessive trait and hitherto about ۱۸ cases presenting with this disease have been reported in the literature. Because of the low prevalence of the disease, the clinical phenotype remains variable and unclear, but the main symptoms are mostly related to the high concentrations of tyrosine and phenolic metabolites, namely mental retardation, ataxia, and seizures. We described the clinical, biochemical, and molecular characteristics of an Iranian female patient with tyrosinemia type III and her ۷-year follow-up plan. A novel variant of HPD (۶۰۹۶۹۵) mutation (c.۷۵۹+۱ G>A) was identified in a homozygous pattern. Despite not being compliant with the recommended diet, the patient continued to have normal neuropsychiatric development in the follow-up, which questions the efficacy of a low-tyrosine diet.
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Authors
Saba Vakili
Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Science, Mashhad, Iran.
Mohammadreza Emami
Department of Pediatric Endocrinology and Metabolism, Imam Reza Hospital, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Moein Mobini
Department of Pediatric Endocrinology and Metabolism, Imam Reza Hospital, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Rahim Vakili
Department of Pediatric Endocrinology and Metabolism, Imam Reza Hospital, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.