Recommendations for the management of tyrosinaemia type 1

被引：141
|
作者：
de Laet, Corinne [1 ]
Dionisi-Vici, Carlo [2 ]
Leonard, James V. [3 ]
McKiernan, Patrick [4 ]
Mitchell, Grant [5 ]
Monti, Lidia [6 ]
de Baulny, Helene Ogier [7 ]
Pintos-Morell, Guillem [8 ]
Spiekerkoetter, Ute [9 ]
机构：
[1] Univ Childrens Hosp Queen Fabiola, Dept Pediat, Nutr & Metab Unit, Brussels, Belgium
[2] Bambino Gesu Childrens Hosp IRCCS, Dept Pediat Med, Div Metab, Rome, Italy
[3] UCL Inst Child Hlth, London WC1N 1EH, England
[4] Birmingham Childrens Hosp, Liver Unit, Birmingham B4 6NH, W Midlands, England
[5] CHU St Justine, Dept Pediat, Montreal, PQ H3T 1C5, Canada
[6] Bambino Gesu Childrens Hosp IRCCS, Dept Radiol, Unit Hepatobiliary Imaging, Rome, Italy
[7] Hop Robert Debre, Reference Ctr Inherited Metab Dis, F-75019 Paris, France
[8] Badalona Univ Autonoma Barcelona, Univ Hosp Germans Trias & Pujol, Sect Paediat Nephrol Genet & Metab, Dept Paediat, Catalonia, Spain
[9] Univ Childrens Hosp, Dept Pediat & Adolescent Med, D-79106 Freiburg, Germany
来源：
ORPHANET JOURNAL OF RARE DISEASES | 2013年 / 8卷
关键词：
Hepatorenal tyrosinaemia; Fumarylacetoacetase; Succinylacetone; Nitisinone; Cirrhosis; Acute live failure; Hepatocellular carcinoma; Low tyrosine diet; LIVER LESION DETECTION; HEREDITARY TYROSINEMIA; NTBC TREATMENT; NITISINONE;
D O I：
10.1186/1750-1172-8-8
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
The management of tyrosinaemia type 1 (HT1, fumarylacetoacetase deficiency) has been revolutionised by the introduction of nitisinone but dietary treatment remains essential and the management is not easy. In this review detailed recommendations for the management are made based on expert opinion, published case reports and investigational studies as the evidence base is limited and there are no prospective controlled studies. The added value of this paper is that it summarises in detail current clinical knowledge about HT1 and makes recommendations for the management.
引用
收藏
页数：9
相关论文
共 50 条
  • [41] Tyrosinaemia Type I. A New Theraphy
    E Raimann
    A Valiente
    M Jímenez
    L Muñoz
    G Durán
    V Cornejo
    Pediatric Research, 1998, 44 (5) : 815 - 815
  • [42] A large TAT deletion in a tyrosinaemia type II patient
    Legarda, Maria
    Wlodarczyk, Katarzyna
    Lage, Sergio
    Andrade, Fernando
    Kim, Gwang-Jin
    Bausch, Elke
    Scherer, Gerd
    Jose Aldamiz-Echevarria, Luis
    MOLECULAR GENETICS AND METABOLISM, 2011, 104 (03) : 407 - 409
  • [43] Abnormal glutathione conjugation in patients with tyrosinaemia type I
    Mulders, TMT
    Bergman, DJW
    PollThe, BT
    Smit, GPA
    Breimer, DD
    Mulder, GJ
    Duran, M
    Smeitink, JAM
    JOURNAL OF INHERITED METABOLIC DISEASE, 1997, 20 (04) : 473 - 485
  • [44] SUCCINYL ACETONE IS PRESENT IN PLASMA OF PATIENTS WITH TYROSINAEMIA TYPE 1 FOLLOWING LIVER TRANSPLANT
    Preece, M. A.
    McKiernan, P. J.
    Holme, E.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2005, 28 : 59 - 59
  • [45] Feeding infants with undiluted goat's milk can mimic tyrosinaemia type 1
    Hendriksz, CJ
    Walter, JH
    ACTA PAEDIATRICA, 2004, 93 (04) : 552 - 553
  • [46] Alterations of hepatic peroxisomes in tyrosinaemia type I: Return to fetal type?
    Kerckaert, I
    de Koning, TJ
    Poll-The, BT
    Roels, F
    JOURNAL OF INHERITED METABOLIC DISEASE, 1998, 21 (03) : 186 - 190
  • [47] Pitfalls in the dietary management of inborn errors of metabolism; An exacerbation of tyrosinaemia type II during the transition of care
    Leach, A.
    Bhattacharya, K.
    Lachmann, R. H.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2007, 30 : 24 - 24
  • [48] Neurofibromatosis 1:: recommendations for management
    Pinson, S
    Créange, A
    Barbarot, S
    Stalder, JF
    Chaix, Y
    Rodriguez, D
    Sanson, M
    Bernheim, A
    D'Incan, M
    Doz, F
    Stoll, C
    Combemale, P
    Kalifa, C
    Zeller, J
    Teillac-Hamel, D
    Lyonnet, S
    Zerah, M
    Lacour, JP
    Guillot, B
    Wolkenstein, P
    ANNALES DE DERMATOLOGIE ET DE VENEREOLOGIE, 2001, 128 (04): : 567 - 575
  • [49] NTBC as palliative treatment in chronic tyrosinaemia type I
    Ros, J
    Vilaseca, MA
    Lambruschini, N
    Mas, A
    Lindstedt, S
    Holme, E
    JOURNAL OF INHERITED METABOLIC DISEASE, 1999, 22 (05) : 665 - A666
  • [50] Cardiomyopathy in tyrosinaemia type I is common but usually benign
    Arora, N
    Stumper, O
    Wright, J
    Kelly, DA
    McKiernan, PJ
    JOURNAL OF INHERITED METABOLIC DISEASE, 2006, 29 (01) : 54 - 57
12345