International Journal of Pediatrics، جلد ۹، شماره ۶، صفحات ۱۳۸۵۳-۱۳۸۵۷
عنوان فارسی
چکیده فارسی مقاله
کلیدواژه‌های فارسی مقاله
عنوان انگلیسی Tyrosinemia Type III: A Case Report with a Seven Years Follow-up
چکیده انگلیسی مقاله Hereditary tyrosinemia type III (OMIM 276710) is a rare inborn error of tyrosine metabolism caused by the deficiency of 4-hydroxyphenylpyruvate dioxygenase (HPD). This metabolic statement is transmitted in an autosomal recessive trait and hitherto about 18 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 7-year follow-up plan. A novel variant of HPD (609695) mutation (c.759+1 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.
کلیدواژه‌های انگلیسی مقاله Child, HPD gene, Tyrosinemia type III, Tyrosine metabolism
نویسندگان مقاله | 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.
نشانی اینترنتی https://ijp.mums.ac.ir/article_17865.html
فایل مقاله فایلی برای مقاله ذخیره نشده است
کد مقاله (doi)
زبان مقاله منتشر شده en
موضوعات مقاله منتشر شده
نوع مقاله منتشر شده
برگشت به: صفحه اول پایگاه   |   نسخه مرتبط   |   نشریه مرتبط   |   فهرست نشریات