TY - JOUR
T1 - Outcome of Tyrosinaemia type III
AU - Ellaway, CJ
AU - Holme, E
AU - Standing, S
AU - Preece, Mary
AU - Green, Anne
AU - Ploechl, E
AU - Ugarte, M
AU - Trefz, FK
AU - Leonard, JV
PY - 2001/1/1
Y1 - 2001/1/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=0035721235&partnerID=8YFLogxK
U2 - 10.1023/A:1013936107064
DO - 10.1023/A:1013936107064
M3 - Article
C2 - 11916315
VL - 24
SP - 824
EP - 832
JO - Journal of Inherited Metabolic Disease
JF - Journal of Inherited Metabolic Disease
ER -