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Tyrosinemia
Presenter: Dr. Varun G. Bansal Moderators: Dr. Ashish Bavdekar, Dr. Murlidhar Mahajan
https://www.ncbi.nlm.nih.gov/pubmed/31574857 Tyrosinemia
Medicine (Baltimore). 2019 Sep;98(39):e17303. doi: 10.1097/MD.0000000000017303.
Evolution of tyrosinemia type 1 disease in patients treated with nitisinone in Spain.
Couce ML1, Sánchez-Pintos P1, Aldámiz-Echevarría L2, Vitoria I3, Navas V4, Martín-Hernández E5, García-Volpe C6, Pintos G7, Peña-Quintana L8, Hernández T9, Gil D10, Sánchez-Valverde F11, Bueno M12, Roca I1, López-Ruzafa E13, Díaz-Fernández C14.
Abstract
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What is tyrosinemia?
Tyrosinemia is an inborn error or metabolism i.e., a genetic error in the breakdown of an amino acid called tyrosine. Due to the error in breakdown, tyrosine and certain by-products accumulate in the body and cause the various disease manifestations.
Presented by/ Moderated by
Dr Manoj Ghoda
Panelists
Dr Priya Kishnani
Dr Seema Alam
Dr S K Yachha
https://www.ncbi.nlm.nih.gov/pubmed/29201126
Iran J Child Neurol. 2017 Fall;11(4):66-70.
Honar N, Shakibazad N, Serati Shirazi Z, Dehghani SM, Inaloo S.
Abstract
OBJECTIVE:
Tyrosinemia type 1 is a hereditary disorder with liver, kidney and nervous system involvement. Neurological crises can occur in tyrosinemic patients without treatment or when treatment stops. Here we report three children that developed diaphragmatic paralysis after discontinuation of nitisinone. In patients with tyrosinemia type 1, combined treatment with nitisinone and a low-tyrosine diet have prevented neurological crises. The purpose of this article was to express the importance of taking nitisinone (NTBC) for tyrosinemia diseases and risks of inadvertent discontinuation.
MATERIALS & METHODS:
Presented by Dr Upender Shava
Moderated by Dr Malathi Sathiyasekaran
Panelists Dr Priya Kishnani
Dr Vishnu Biradar
Dr Mamta Muranjan
Presented by
Dr. Abhamoni Baro
Moderated by
Dr. John Matthai
Panelists:
Dr. S K Yachha
Dr. Archana Kher
Dr. Girish Gupte
Indian J Gastroenterol. 2013 Feb 14. [Epub ahead of print]
Tyrosinemia: a report of three cases from India.
Shah I.
Source: Pediatric Hepatobiliary Clinic, B J Wadia Hospital for Children, 1/B Saguna, 271/B St Francis Road, Vile Parle (W), Mumbai, 400 056, India, irashah@pediatriconcall.com.
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