SELECTED JOURNAL ARTICLES ON TYROSINEMIA TYPE II
(always updating web addresses-may need to cut/paste URL another page)
A very good site from OMIMTM - Online Mendelian Inheritance in ManT and Johns Hopkins University.
http://www3.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276600
Dietary management of oculocutaneous tyrosinemia in an 11-year-old child
Ney D, Bay C, Schneider JA, Kelts D, Nyhan WL.
Am J Dis Child 1983 Oct;137(10):995-1000
An 11-year-old girl with keratitis and plantar keratosis had tyrosinemia. The concentration of tyrosine in the plasma was 16.5 mg/dL. Dietary intake of phenylalanine and tyrosine was systematically varied, and the plasma concentrations of tyrosine and nitrogen balance were studied. It was necessary to achieve a total intake of phenylalanine and tyrosine less than 100 mg/kg/day to obtain plasma concentrations of tyrosine of less than 10 mg/dL. After dietary therapy was started, the keratitis resolved promptly, and the patient remained asymptomatic during a period of 16 months in which the mean plasma concentration of tyrosine was 11.1 mg/dL. The dietary management of a child at this age presents a different problem from that of a young infant. It can be successfully pursued at home, as well as in the carefully regulated environment of a clinical research center.
Novel and recurrent tyrosine aminotransferase gene mutations in Tyrosinemia Type II
Regina Hühn (1), Heike Stoermer (1), Beate Klingele (1), Elke Bausch (1), Alberto Fois (2), Mariangela Farnetani (2), Maja Di Rocco (3), Joelle Boué (4), Jean M. Kirk (5), Rosalind Coleman (6), G. Scherer (1)
Human Genetics ISSN: 0340-6717 Abstract Volume 102 Issue 3 (1998) pp 305-313
Painful keratoderma and photophobia: hallmarks of tyrosinemia type II.
Rabinowitz LG; Williams LR; Anderson CE; Mazur A; Kaplan P
Department of Pediatrics, Medical College of Wisconsin, Milwaukee.
J Pediatr, 1995 Feb, 126:2, 266-9
Abstract: Tyrosinemia type II (Richner-Hanhart syndrome), which is caused by a deficiency of hepatic tyrosine aminotransferase, results in elevated plasma and urinary tyrosine concentrations. We describe a young boy who was seen at 6 months of age with red eyes, photophobia, and eye pain that were not suspected to be caused by tyrosinemia II until painful plantar keratoderma developed at 2 1/2 years of age. Treatment with a diet low in tyrosine and phenylalanine reversed the manifestations of the disease.
| East Mediterr Health J. 1999 Nov;5(6):1204-7. | |
Tyrosinaemia type II: an easily diagnosed metabolic disorder with a rewarding therapeutic response.
al-Essa MA, Rashed MS, Ozand PT.
Department of Paediatrics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
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.
PMID: 11924112 [PubMed - indexed for MEDLINE]
Tyrosinemia type II: a challenge for ophthalmologists and dermatologists.
Author
Benoldi D; Orsoni JB; Allegra F
Address
Dermatology Institute, Parma University, Italy.
Source
Pediatr Dermatol, 14(2):110-2 1997 Mar-Apr
Abstract
Tyrosinemia type II was suspected in a 13-month-old child with recurrent photophobia, tearing, and hyperkeratotic lesions on the palms and soles. Laboratory tests revealed high tyrosine levels in blood and urine. All the symptoms promptly improved after the institution of a low tyrosine diet. We emphasize the importance of an early diagnosis in order to avoid the risk of mental retardation in these patients.
Language
Eng
Unique Identifier
97289910
