PMID: 11916315Mar 28, 2002Paper

Outcome of tyrosinaemia type III

Journal of Inherited Metabolic Disease
C J EllawayJ V Leonard

Abstract

Tyrosinaemia type III is a rare disorder caused by a deficiency of 4-hydroxyphenylpyruvate dioxygenase, the second enzyme in the catabolic pathway of tyrosine. The majority of the nine previously reported patients have presented with neurological symptoms after the neonatal period, while others detected by neonatal screening have been asymptomatic. All have had normal liver and renal function and none has skin or eye abnormalities. A further four patients with tyrosinaemia type III are described. It is not clear whether a strict low tyrosine diet alters the natural history of tyrosinaemia type III, although there remains a suspicion that treatment may be important, at least in infancy.

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Citations

Aug 30, 2011·Journal of Inherited Metabolic Disease·Daniela BraconiAnnalisa Santucci
Nov 10, 2011·Journal of Inherited Metabolic Disease·Eva ThimmUte Spiekerkoetter
Apr 20, 2016·Fetal and Pediatric Pathology·Maryam RafatiSaeed Reza Ghaffari
Nov 10, 2018·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Kellie MacDonaldYannis Trakadis
Feb 23, 2020·Journal of Inherited Metabolic Disease·Milad KhedrLakshminarayan R Ranganath
Jun 11, 2020·Revista paulista de pediatria : orgão oficial da Sociedade de Pediatria de São Paulo·Fábio BarrosoEsmeralda Martins
Aug 24, 2004·Rheumatology International·Julie M KellerIsraeli A Jaffe
Aug 19, 2009·Metabolic Brain Disease·Angela M SgaravattiCarlos Severo Dutra-Filho
Jul 6, 2010·Rheumatology·Daniela BraconiAnnalisa Santucci
Jul 29, 2010·Journal of Cellular Biochemistry·Daniela BraconiAnnalisa Santucci
Aug 19, 2014·International Journal of Hepatology·Manuela ScorzaGiuseppe Castaldo
Feb 29, 2020·Journal of Pediatric Endocrinology & Metabolism : JPEM·Dehua ZhaoLiting Jia
Apr 8, 2006·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·C Ronald Scott
Jan 1, 2013·Rare Diseases·Jemma B MistryAdam M Taylor
Apr 11, 2015·Journal of Inherited Metabolic Disease·Jean-Baptiste ArnouxPascale de Lonlay
Jan 25, 2008·Journal of Inherited Metabolic Disease·A Masurel-PauletG Touati
Jul 13, 2011·Developmental Medicine and Child Neurology·Corinne De LaetPhilippe J Goyens
Jul 23, 2003·Journal of Inherited Metabolic Disease·P GissenP J McKiernan
May 11, 2021·Brain : a Journal of Neurology·Manuela WiessnerJan Senderek
Jul 29, 2008·Biomedicine & Pharmacotherapy = Biomédecine & Pharmacothérapie·Patrizia D'EufemiaAlessandra Zicari
Nov 30, 2010·Molecular Genetics and Metabolism·Eva ThimmUte Spiekerkoetter

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