Tyrosinaemia type II: an easily diagnosed metabolic disorder with a rewarding therapeutic response.
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.
al-Essa
M A
MA
Department of Paediatrics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
Rashed
M S
MS
Ozand
P T
PT
D000328:Adult; D002648:Child; D002851:Chromatography, High Pressure Liquid; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D013058:Mass Spectrometry; D010649:Phenylalanine / Q000097:blood; D012189:Retrospective Studies; D014443:Tyrosine / Q000097:blood; D020176:Tyrosinemias / Q000097:blood / Q000150:complications / Q000175:diagnosis* / Q000178:diet therapy / Q000235:genetics
D014443:Tyrosine; D010649:Phenylalanine