Tyrosinaemia type II: an easily diagnosed metabolic disorder with a rewarding therapeutic response
Keyword(s):
Type Ii
◽
We retrospectively reviewed clinical and biochemical data of four patients diagnosed with tyrosinaemia type II. Diagnosis was established by high plasma tyrosine and normal plasma phenylalanine levels using plasma high-pressure liquid chromatography and tandem mass spectrometry. All patients were mildly mentally retarded and had painful non-pruritic and hyperkeratotic plaques on the soles and palms. There were no ophthalmic symptoms. The patients dramatically responded clinically and biochemically to a diet restricted in tyrosine and phenylalanine
2017 ◽
Vol 50
(3)
◽
pp. 103-113
◽
2012 ◽
Vol 901
◽
pp. 93-97
◽
2011 ◽
Vol 879
(30)
◽
pp. 3484-3489
◽
2009 ◽
Vol 1216
(15)
◽
pp. 3078-3089
◽
1998 ◽
Vol 12
(11)
◽
pp. 712-728
◽
2016 ◽
Vol 1429
◽
pp. 265-276
◽
2016 ◽
Vol 1011
◽
pp. 128-135
◽