Two siblings with tyrosinaemia type 2

European Journal of Pediatrics

Volumn 162, Issue 2, 2003, Pages 81-83

  Aydin, Ömer Faruk ^a,b   Zorlu, Pelin ^a   Kunak, Benal ^a   Tezic, Tahsin ^a   Eken, Alev ^a  

^a DR SAMI ULUS CHILDREN S HOSPITAL   (Turkey)

^b NONE   (Turkey)

Author keywords

Diet; Palmo plantar keratosis; Richner Hanhart syndrome; Tyrosinaemia type 2

Indexed keywords

PHENYLALANINE; PROTEIN; TYROSINE;

AMINO ACID BLOOD LEVEL; ARTICLE; CASE REPORT; CLINICAL FEATURE; CONJUNCTIVITIS; DIET THERAPY; DISEASE ASSOCIATION; DISEASE COURSE; FEMALE; HUMAN; HYPERKERATOSIS; LACRIMATION; MALE; PAIN; PHOTOPHOBIA; PRESCHOOL CHILD; PRIORITY JOURNAL; SIBLING; TYROSINEMIA;

EID: 0037326153     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-002-0962-4     Document Type: Article

References (10)

1. Balato N, Cusano F, Lembo G, Santoianni P (1986) Tyrosinemia type II in two cases previously reported as Richner-Hanhart syndrome. Dermatologica 173: 66-74
2. Bardelli AM, Borgogni P, Farnetani MA, Fois A, Frezzotti R, Mattei R (1977) Familial tyrosinemia with eye and skin lesions. Ophthalmologica 175: 5-9
3. Bienfang DC, Kuwabara T, Pueschel SM (1976) The Richner-Hanhart syndrome. Arch Ophthalmol 94: 1133-1137
4. Garibaldi LR, Siliato F, De Martini I, Scarsi MR (1977) Oculocutaneous tyrosinosis. Report of two cases in the same family. Helv Paediatr Acta 32: 173-180
5. Goldsmith LA, Reed J (1976) Tyrosine-induced eye and skin lesions. A treatable genetic disease. JAMA 236: 382-384
6. Goldsmith LA, Kang E, Bienfang DC, Jimbow K, Gerald P, Baden HP (1973) Tyrosinemia with plantar and palmar keratoses and keratitis. J Pediatr 83: 798-805
7. Mitchell GA, Lambert M, Tanguay RM (1995) Hypertyrosinemia. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease, 7th edn., vol 1. McGraw-Hill, New York, pp 1082-1083
8. Ney D, Bay C, Scheneider JA, Kelts D, Nyhan WL (1983) Dietary management of oculocutaneous tyrosinemia in an 11-year-old child. Am J Dis Child 137: 995-1000
9. Rehak A, Selim MM, Yadav G (1981) Richner-Hanhart syndrome (tyrosinemia II). Report of four cases without ocular involvement. Br J Dermatol 104: 469-475
10. Zaleski WA, Hill A, Kushniruk W (1973) Skin lesions in tyrosinosis: response to dietary treatment. Br J Dermatol 88: 335-340