Outcome of tyrosinaemia type III.
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.
Ellaway
C J
CJ
Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health, London, UK.
Holme
E
E
Standing
S
S
Preece
M A
MA
Green
A
A
Ploechl
E
E
Ugarte
M
M
Trefz
F K
FK
Leonard
J V
JV
D015111:4-Hydroxyphenylpyruvate Dioxygenase / Q000172:deficiency; D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007360:Intelligence; D008297:Male; D015997:Neonatal Screening; D016896:Treatment Outcome; D014443:Tyrosine / Q000097:blood; D020176:Tyrosinemias / Q000175:diagnosis / Q000178:diet therapy* / Q000209:etiology* / Q000523:psychology
D014443:Tyrosine; D015111:4-Hydroxyphenylpyruvate Dioxygenase