Impaired Cognitive Functioning in Patients with Tyrosinemia Type I Receiving Nitisinone
نویسندگان
چکیده
منابع مشابه
Long-term cognitive functioning in individuals with tyrosinemia type 1 treated with nitisinone and protein-restricted diet
INTRODUCTION Tyrosinemia Type 1 (HT1) is an autosomal recessive disorder caused by a defect in the enzyme fumarylacetoacetate hydroxylase in the tyrosine pathway. Implementation of nitisinone (NTBC) treatment has dramatically improved survival rate of individuals with HT1, yet recent reports on cognitive impairment in treated patients exist. AIMS Describe long-term neurocognitive outcome indi...
متن کاملNeurological Crises after Discontinuation of Nitisinone (NTBC) Treatment in Tyrosinemia
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-tyrosin...
متن کاملEvaluation of pre-symptomatic nitisinone treatment on long-term outcomes in Tyrosinemia type 1 patients: a systematic review
BACKGROUND Tyrosinemia type 1 (TYR1) is a rare autosomal recessive disorder of amino acid metabolism that is fatal without treatment. With medication (nitisinone) and dietary restrictions outcomes are improved. We conducted a systematic review to investigate if treatment with nitisinone following screening provides better long-term outcomes than treatment with nitisinone following symptomatic d...
متن کاملClinical utility of nitisinone for the treatment of hereditary tyrosinemia type-1 (HT-1)
Medical therapy for hereditary hepatorenal tyrosinemia (hereditary tyrosinemia type 1, HT-1) with nitisinone was discovered incidentally, and is a by-product of agrochemistry. It blocks the catabolic pathway of tyrosine, thereby leading to a reduction in the accumulation of toxic metabolites in HT-1. It has to be combined with a low-protein diet supplemented with amino acid mixtures devoid of t...
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ژورنال
عنوان ژورنال: The Journal of Pediatrics
سال: 2014
ISSN: 0022-3476
DOI: 10.1016/j.jpeds.2013.10.001