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A Case of Tyrosinemia Type III with Status Epilepticus and Mental Retardation
Tyrosinemia type III is an autosomal recessive disorder caused by the deficiency of 4- hydroxyphenylpyruvate dioxygenase (4-HPPD). It is characterized by elevated levels of blood tyrosine and massive excretion of its derivatives into the urine. Clinical findings of tyrosinemia type III include neuro...
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Medknow Publications & Media Pvt Ltd
2018
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5812087/ https://www.ncbi.nlm.nih.gov/pubmed/29456978 http://dx.doi.org/10.4103/2277-9175.223740 |
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author | Najafi, Reza Mostofizadeh, Neda Hashemipour, Mahin |
author_facet | Najafi, Reza Mostofizadeh, Neda Hashemipour, Mahin |
author_sort | Najafi, Reza |
collection | PubMed |
description | Tyrosinemia type III is an autosomal recessive disorder caused by the deficiency of 4- hydroxyphenylpyruvate dioxygenase (4-HPPD). It is characterized by elevated levels of blood tyrosine and massive excretion of its derivatives into the urine. Clinical findings of tyrosinemia type III include neurological symptoms and mental retardation. Only a few patients presenting with this disease have been described, and the clinical phenotype remains variable and unclear. We present a case, who was admitted to the hospital at the age of 4 months for recurrent seizures. Two months later, she was admitted again with status epilepticus. Laboratory data showed increased level of tyrosine in the blood. She was treated with a diet low in tyrosine and phenylalanine and anamix formula that leading to catch-up growth and improvement of her symptoms. Plasma tyrosine level dropped to normal values. In any child who presents with the neurologic symptom, some rare diagnosis like tyrosinemia type III should be considered. |
format | Online Article Text |
id | pubmed-5812087 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | Medknow Publications & Media Pvt Ltd |
record_format | MEDLINE/PubMed |
spelling | pubmed-58120872018-02-16 A Case of Tyrosinemia Type III with Status Epilepticus and Mental Retardation Najafi, Reza Mostofizadeh, Neda Hashemipour, Mahin Adv Biomed Res Case Report Tyrosinemia type III is an autosomal recessive disorder caused by the deficiency of 4- hydroxyphenylpyruvate dioxygenase (4-HPPD). It is characterized by elevated levels of blood tyrosine and massive excretion of its derivatives into the urine. Clinical findings of tyrosinemia type III include neurological symptoms and mental retardation. Only a few patients presenting with this disease have been described, and the clinical phenotype remains variable and unclear. We present a case, who was admitted to the hospital at the age of 4 months for recurrent seizures. Two months later, she was admitted again with status epilepticus. Laboratory data showed increased level of tyrosine in the blood. She was treated with a diet low in tyrosine and phenylalanine and anamix formula that leading to catch-up growth and improvement of her symptoms. Plasma tyrosine level dropped to normal values. In any child who presents with the neurologic symptom, some rare diagnosis like tyrosinemia type III should be considered. Medknow Publications & Media Pvt Ltd 2018-01-22 /pmc/articles/PMC5812087/ /pubmed/29456978 http://dx.doi.org/10.4103/2277-9175.223740 Text en Copyright: © 2018 Advanced Biomedical Research http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 3.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as the author is credited and the new creations are licensed under the identical terms. |
spellingShingle | Case Report Najafi, Reza Mostofizadeh, Neda Hashemipour, Mahin A Case of Tyrosinemia Type III with Status Epilepticus and Mental Retardation |
title | A Case of Tyrosinemia Type III with Status Epilepticus and Mental Retardation |
title_full | A Case of Tyrosinemia Type III with Status Epilepticus and Mental Retardation |
title_fullStr | A Case of Tyrosinemia Type III with Status Epilepticus and Mental Retardation |
title_full_unstemmed | A Case of Tyrosinemia Type III with Status Epilepticus and Mental Retardation |
title_short | A Case of Tyrosinemia Type III with Status Epilepticus and Mental Retardation |
title_sort | case of tyrosinemia type iii with status epilepticus and mental retardation |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5812087/ https://www.ncbi.nlm.nih.gov/pubmed/29456978 http://dx.doi.org/10.4103/2277-9175.223740 |
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