Resul YILMAZ, Mustafa ÖZÇETİN, Erhan KARAARSLAN, Haluk ESMERAY

Erken Tespit Edilen Alkaptonüri: Vaka Sunusu

Alkaptonüri, ender görülen, otozomal resesif geçişli, tanımlanmış ilk doğumsal metabolik hastalıktır. Homo- gentisik asit oksidaz enzim yetersizliğine bağlı olarak homogentisik asit ve metabolitlerinin bağ dokusunda birik- mesi ile hastalık belirtileri ortaya çıkar. Ateş yüksekliği ve boy kısalığı nedeniyle başvuran kız hastada idrarda renk değişikliğinin ayrıcı tanıda yol gösterici olduğu, erken yaşta tespit edilen alkaptonüri vakası sunulmuştur

Anahtar Kelimeler:

Alkaptonüri, çocuk, erken tanı

An Early Detected Alkaptonuria: Case Report

Alkaptonuria is the first described autosomal recessive inherited metabolic disorder. Signs and symptoms appear with deposition of homogentisic acid and its metabolites in the connective tissue due to homogentisic acid oxidase deficiency. In this article a case of 7- year old girl is pre- sentedreferred with the complaints of fever and short sta- ture, and diagnosed as a case of alkaptonuria with the guiding diagnostic clue of discoloration of urine

Keywords:

Alkaptonuria, children, early diagnosis,

PDF

___

1. Wasant P, Svasti J, Srisomsap C, Liammongkolkul S. Inherited metabolic disorders in Thailand, J Med Assoc Thai 2002;85:700-9.
2. Saudubray JM, Sedel F, Walter JH. Clinical approach to treatable inborn metabolic diseases: an introduction. J Inherit Metab Dis 2006;29(2-3):261-74. http://dx.doi.org/10.1007/s10545-006-0358-0 PMid:16763886
3. Garrod AE. The incidence of alkaptonuria: a study in chemical individuality. 1902 [classical article] Yale J Biol Med 2002;75(4):221-31. PMid:12784973 PMCid:2588790
4. Granadino B, Beltran-Valero de Benabe D, FernandezCanon JM, et al. The human homogentisate 1,2 dioxygenase gene. Genomics 1997;43:115-22. http://dx.doi.org/10.1006/geno.1997.4805 PMid:9244427
5. Demirkol M. Aminoasit metabolizma bozukluları. In: Neyzi O, Ertuğrul T eds. Pediatri. İstanbul: Nobel Tıp Kitapevleri, 2010:787-817.
6. Micali G, Di Stefano AG, Nasca MR, Musumeci ML. A 46-year-old man with a 4-year history of diffuse brownish black pigmentation. Endogenous ochronosis (alkaptonuria). Arch Dermatol 1998;134(1):98, 100-1. http://dx.doi.org/10.1001/archderm.134.1.97-a
7. Janocha S, Wolz W, Srsen S, et al. The human gene for alkaptonuria (AKU) maps to chromosome 3q. Genomics. 1994;19(1):5-8. http://dx.doi.org/10.1006/geno.1994.1003 PMid:8188241
8. Bunim JJ, McGuire JS Jr, Hilbish TF, et al. Alcaptonuria, clinical staff conference at the national institutes of health. Ann Intern Med 1957;47:1210. PMid:13488201
9. Cooper PA. Alkaptonuria with ochronosis. Proc R Soc Med 1951;44:917. PMCid:2081964
10. Minno AM, Rogers JA. Ochronosis: report of a case. Ann Intern Med 1957;46:179. PMid:13395229
11. Verma SB. Early detection of alkaptonuria. Indian J Dermatol Venereol Leprol 2005;71(3):189-91. http://dx.doi.org/10.4103/0378-6323.16236 PMid:16394410
12. Hill A, Hoag GN, Zaleski WA. The investigation of aromatic acids in phenylketonuria, alkaptonuria and tyrosinosis using gas-liquid chromatography. Clin Chim Acta 1972;37:455-62.
13. Morava E, Kosztolányi G, Engelke UF, Wevers RA. Reversal of clinical symptoms and radiographic abnormalities with protein restriction and ascorbic acid in alkaptonuria. Ann Clin Biochem 2003;40:108-11. http://dx.doi.org/10.1258/000 456303321016268 PMid:12542920
14. Anikster Y, Nyhan WL, Gahl WA. NTBC and alkaptonuria. Am J Hum Genet 1998; 63:920-1. http://dx.doi.org/10.1086/302027 PMid:9718357
15. Wolff JA, Barshop B, Nyhan WL, et al. Effects of ascorbic acid in alkaptonuria: alterations in benzoquinone acetic acid and an ontogenic effect in infancy. Pediatr Res 1989;26(2):140-4. http://dx.doi.org/10.1203/00006450-198908000-00015 PMid:2771520
16. Fernández-Cañón JM, Peñalva MA. Molecular characterization of a gene encoding a homogentisate dioxygenase from Aspergillus nidulans and identification of its human and plant homologues. J Biol Chem 1995;270(36):21199-205. http://dx.doi.org/10.1074/jbc.270.36.21199