Araştırma Makalesi

Three case reports of alkaptonuria, a rare metabolic disease, in two first-degree relatives and one patient

Cilt: 32 Sayı: 2 11 Haziran 2010
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Three case reports of alkaptonuria, a rare metabolic disease, in two first-degree relatives and one patient

Öz

Alkaptonuria is a rare hereditary disease, characterized by an abnormal blackish coloration of the urine, dark pigmentation of the connective tissue which is due to a deficiency in homogentisate 1, 2-dioxygenase (HGO), a tyrosine catabolizing enzyme. In this study two-years-old girl, five-year-old boy siblings and 11-month-old boy with alkaptonuria were presented. The diagnosis was confirmed by urinary homogentisic acid (HGA) amount. Normal levels of HGA in urine are 2.4 – 12 ng/ml. In these three cases within urine samples, the level of HGA (2.5-dihydroxyphenylacetic acid) showed an increase of 14, 14, 24 fold, respectively. The treatment focuses upon these aspects: correction of the production of HGA and prevention of complications. For reduction of HGA excretion has been suggested treatment with vitamin C and protein restriction have been proposed. Our patients were showed normal growth and development and no major complications of the disease because of consuming a diet with low protein.

Anahtar Kelimeler

Kaynakça

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  6. Verma SB. Early detection of alkaptonuria. Indian J Dermatol Venereol Leprol 2005; 71: 189-91.
  7. Jeucken YM, Visser G, Jaarsma AS, van Spronsen FJ. A child with dark discoloration of urine. Ned Tijdschr Geneeskd 1999;143: 1641-3.
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Ayrıntılar

Birincil Dil

İngilizce

Konular

Sağlık Kurumları Yönetimi

Bölüm

Araştırma Makalesi

Yazarlar

Mehtap Fırat

Murat Sancaktar

Yayımlanma Tarihi

11 Haziran 2010

Gönderilme Tarihi

17 Kasım 2009

Kabul Tarihi

-

Yayımlandığı Sayı

Yıl 2010 Cilt: 32 Sayı: 2

IZ

https://izlik.org/JA95HL93NX

Kaynak Göster

RIS / Bibtex
APA
Tanzer, F., Ayvaz, A., Fırat, M., & Sancaktar, M. (2010). Three case reports of alkaptonuria, a rare metabolic disease, in two first-degree relatives and one patient. Cumhuriyet Medical Journal, 32(2), 235-237. https://izlik.org/JA95HL93NX
AMA
1.Tanzer F, Ayvaz A, Fırat M, Sancaktar M. Three case reports of alkaptonuria, a rare metabolic disease, in two first-degree relatives and one patient. CMJ. 2010;32(2):235-237. https://izlik.org/JA95HL93NX
Chicago
Tanzer, Fatoş, Adnan Ayvaz, Mehtap Fırat, ve Murat Sancaktar. 2010. “Three case reports of alkaptonuria, a rare metabolic disease, in two first-degree relatives and one patient”. Cumhuriyet Medical Journal 32 (2): 235-37. https://izlik.org/JA95HL93NX.
EndNote
Tanzer F, Ayvaz A, Fırat M, Sancaktar M (01 Haziran 2010) Three case reports of alkaptonuria, a rare metabolic disease, in two first-degree relatives and one patient. Cumhuriyet Medical Journal 32 2 235–237.
IEEE
[1]F. Tanzer, A. Ayvaz, M. Fırat, ve M. Sancaktar, “Three case reports of alkaptonuria, a rare metabolic disease, in two first-degree relatives and one patient”, CMJ, c. 32, sy 2, ss. 235–237, Haz. 2010, [çevrimiçi]. Erişim adresi: https://izlik.org/JA95HL93NX
ISNAD
Tanzer, Fatoş - Ayvaz, Adnan - Fırat, Mehtap - Sancaktar, Murat. “Three case reports of alkaptonuria, a rare metabolic disease, in two first-degree relatives and one patient”. Cumhuriyet Medical Journal 32/2 (01 Haziran 2010): 235-237. https://izlik.org/JA95HL93NX.
JAMA
1.Tanzer F, Ayvaz A, Fırat M, Sancaktar M. Three case reports of alkaptonuria, a rare metabolic disease, in two first-degree relatives and one patient. CMJ. 2010;32:235–237.
MLA
Tanzer, Fatoş, vd. “Three case reports of alkaptonuria, a rare metabolic disease, in two first-degree relatives and one patient”. Cumhuriyet Medical Journal, c. 32, sy 2, Haziran 2010, ss. 235-7, https://izlik.org/JA95HL93NX.
Vancouver
1.Fatoş Tanzer, Adnan Ayvaz, Mehtap Fırat, Murat Sancaktar. Three case reports of alkaptonuria, a rare metabolic disease, in two first-degree relatives and one patient. CMJ [Internet]. 01 Haziran 2010;32(2):235-7. Erişim adresi: https://izlik.org/JA95HL93NX