title: Tyrosinaemia type II: an easily diagnosed metabolic disorder with a rewarding therapeutic response.
abstract: 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.
authors.affiliation: Department of Paediatrics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
authors.forename: M A
authors.initials: MA
authors.lastname: al-Essa
authors.forename: M S
authors.initials: MS
authors.lastname: Rashed
authors.forename: P T
authors.initials: PT
authors.lastname: Ozand
mesh_terms: 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
chemical_list: D014443:Tyrosine; D010649:Phenylalanine