Research Article

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

Volume: 32 Number: 2 June 11, 2010
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Cumhuriyet Medical Journal
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Three case reports of alkaptonuria, a rare metabolic disease, in two first-degree relatives and one patient

Abstract

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.

Keywords

References

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Details

Primary Language

English

Subjects

Health Care Administration

Journal Section

Research Article

Authors

Mehtap Fırat

Murat Sancaktar

Publication Date

June 11, 2010

Submission Date

November 17, 2009

Acceptance Date

-

Published in Issue

Year 2010 Volume: 32 Number: 2

IZ

https://izlik.org/JA95HL93NX

Cite

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, and 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 (June 1, 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, and M. Sancaktar, “Three case reports of alkaptonuria, a rare metabolic disease, in two first-degree relatives and one patient”, CMJ, vol. 32, no. 2, pp. 235–237, June 2010, [Online]. Available: 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 (June 1, 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, et al. “Three Case Reports of Alkaptonuria, a Rare Metabolic Disease, in Two First-Degree Relatives and One Patient”. Cumhuriyet Medical Journal, vol. 32, no. 2, June 2010, pp. 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]. 2010 Jun. 1;32(2):235-7. Available from: https://izlik.org/JA95HL93NX