Tyrosinemia type II: Report of the first four cases in Saudi Arabia

Annals of Saudi Medicine

Volumn 18, Issue 5, 1998, Pages 466-468

  Al Essa, M ^a   Rashed, M ^a   Ozand, P T ^a  

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

PHENYLALANINE; TYROSINE; TYROSINE AMINOTRANSFERASE;

ADULT; AMINO ACID BLOOD LEVEL; ARTICLE; CASE REPORT; DIET THERAPY; FEMALE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; INBORN ERROR OF METABOLISM; MALE; PRIORITY JOURNAL; SAUDI ARABIA; SCHOOL CHILD; TANDEM MASS SPECTROMETRY; TYROSINEMIA;

EID: 2442746720     PISSN: 02564947     EISSN: None     Source Type: Journal    
DOI: 10.5144/0256-4947.1998.466     Document Type: Article

References (24)

1. Goldsmith LA, Kang E, Bienfang DC, Jimbow K, Gerald P, Baden HP. Tyrosinemia with plantar and palmer keratosis and keratitis. J Pediatr 1973;83:798-805.
2. Goldsmith LA. Tyrosinemia and related disorders. In: Stanbury JB, Wyngaarden JB, Fredrickson DS, Goldstein JL, Brown MS, editors. The metabolic basis of inherited disease. 5th edition. New York: McGraw-Hill, 1983;287-299.
3. Goldsmith LA, Laberge C. Tyrosinemia and related disorders. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic basis of inherited disease. 6th edition. New York: McGraw-Hill, 1989:547-62.
4. Colditz PB, Yu JS, Billson FA, Rogers M, Molloy HF, O'Halloran M, Wilcken B. Tyrosinaemia II. Med J Aust 1984;141:244-5.
5. Chitayat D, Balbul A, Hani V, Mamer OA, Clow C, Scriver CR. Hereditary tyrosinemia type II in a consanguineous Ashkenazi Jewish family: intrafamilial variation in phenotype, absence of parental phenotype effects on the fetus. J Inherited Metab Dis 1992;15:198-203.
6. Fois A, Borgogni P, Cioni M, Molinelli M, Frezzotti R, Bardelli AM, et al. Presentation of the data of the Italian registry for oculocutaneous tyrosinaemia. J Inherited Metab Dis 1986;9(suppl):S262-3.
7. Rashed MS, Ozand PT, Bucknall MP, Little D. Diagnosis of inborn errors of metabolism from blood spots by acylcarnitines and amino acids profiling using automated electrospray tandem mass spectrometry. Pediatr Res 1995;38:324-331.
8. Richner H. Horhautaffektion bei Keratoma palmare et plantare hereditarium. Klin Monatsbl Augenheilk 1938;100:580-8.
9. Hanhart E. Neue Sonderformen von Keratosis palmo-plantaris u.a. eine regelmässig dominante Form mit systematisierten Lipomen, ferner zwei einfach rezessive mit Schwachsinn und z.B. mit Hornhautveränderuengen des Auges (Ektodermalsyndrom). Dermatologica 1947;94:286-308.
10. Hunziker N. Richner-Hanhart syndrome and tyrosinemia type II. Dermatologica 1980;160:180-9.
11. Larregue M, De Giacomoni PH, Bressieux JM, Odievre M. Syndrome de Richner-Hanhart ou tyrosinose oculocutanee. A propos d'un cas. Ann Dermatol Venereol 1979;106:53-62.
12. Rehak A, Selim MM, Yadav G. Richner-Hanhart syndrome (tyrosinaemia-II): report of four cases without ocular involvement. Br J Dermatol 1981;104:469-75.
13. Lestringant G. Tyrosinemia type II with incomplete Richner-Hanhart's syndrome. Int J Dermatol 1988;27:43-4.
14. Gramet C, Lods F. Syndrome de Richner-Hanhart sans atteinte cutanee. Bull Soc Ophthalmol Fr 1984;84:129-30.
15. Heidemann DG, Dunn SP, Bawle EV, Shepherd DM. Early diagnosis of tyrosinemia type II. Am J Ophthalmol 1989;107:559-60.
16. Roussat B, Fournier F, Besson D, Godde-Joly D. A propos de deux cas de tyrosinose de type II (syndrome de Richner-Hanhart). Bull Soc Ophthalmol 1988;88:751-7.
17. Balato N, Cusano F, Lembo G, Santoianni P, Tyrosinemia type II in two cases previously reported as Richner-Harhart syndrome. Dermatologica 1986;173:66-74.
18. Fraser NG, MacDonald J, Griffiths WA, McPhie JL. Tyrosinaemia type II (Richner-Hanhart syndrome): report of two cases treated with etretinate. Clin Exp Dermatol 1987;12:440-3.
19. Fellman JH, Vanbellinghen PJ, Jones RT, Koler RD. Soluble and mitochondrial forms of tyrosine aminotransferase. Relationship to human tyrosinemia. Biochemistry 1969;8:615-22.
20. Lemonnier F, Charpentier C, Odievre M, Larregue M, Lemonnier A. Tyrosine aminotransferase isoenzyme deficiency. J Pediatr 1979;94:931-2.
21. Westphall EM, Natt E, Grimm T, Odievre M, Scherer G. The human tyrosine aminotransferase gene: characterization of restriction fragment, length polymorphisms and haplotype analysis in a family with tyrosinemia type II. Hum Genet 1988;79:260-4.
22. Natt E, Kida K, Odievre M, Di Rocco M, Scherer G. Point mutations in the tyrosine aminotransferase TAT gene in tyrosinemia type II. Proc Natl Acad Sci USA 1992;89:9297-301.
23. Mitchell G, Lambert M, Tanguay R. Hypertyrosinemia. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular basis of inherited disease. 7th edition. New York: McGraw-Hill, 1995:1077-106.
24. Sayar RB, von Domarus D, Schäfer HJ, Beckenkamp G. Clinical picture and problems of keratoplasty in Richner-Hanhart syndrome (tyrosinemia type II). Ophthalmologica 1988;197:1-6.