Alkaptonuria--case report

Alkaptonuria, also called endogenous ochronosis, is a rare metabolic autosomal recessive disorder. It occurs by complete inhibition of homogentisic acid oxidase enzyme having its deposition in various tissues. Male patient, 52 years old, sought medical help complaining about progressive appearance o...

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Published in:	Anais brasileiros de dermatología Vol. 89; no. 5; pp. 799 - 801
Main Authors:	Craide, Fernanda Helena, Fonseca, Juliana Salvini Barbosa Martins da, Mariano, Priscila Coelho, Fernandez, Natalia Monteiro, Castro, Carlos Gustavo Carneiro de, Mene, Yuri de Souza Lima
Format:	Journal Article
Language:	English
Published:	Brazil Sociedade Brasileira de Dermatologia 01-09-2014
Subjects:	Alkaptonuria Alkaptonuria - pathology Biopsy Case Report DERMATOLOGY Homogentisic acid Humans Male Middle Aged Ochronosis Ochronosis - pathology Sclera - pathology Skin - pathology Homogentisic acid Alkaptonuria Ochronosis
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Abstract	Alkaptonuria, also called endogenous ochronosis, is a rare metabolic autosomal recessive disorder. It occurs by complete inhibition of homogentisic acid oxidase enzyme having its deposition in various tissues. Male patient, 52 years old, sought medical help complaining about progressive appearance of hyperchromic papules on the lateral edge of the second finger of both hands for 02 years. He also complained about darkening of urine, sperm and underwear. Incisional biopsy of second hand finger and test for homogentisic acid in the urine results were positive. The findings are compatible with the diagnosis of alkaptonuria. Given these findings, treatment was initiated, followed-up by other specialties and he was advised to avoid certain foods.
AbstractList	Alkaptonuria, also called endogenous ochronosis, is a rare metabolic autosomal recessive disorder. It occurs by complete inhibition of homogentisic acid oxidase enzyme having its deposition in various tissues. Male patient, 52 years old, sought medical help complaining about progressive appearance of hyperchromic papules on the lateral edge of the second finger of both hands for 02 years. He also complained about darkening of urine, sperm and underwear. Incisional biopsy of second hand finger and test for homogentisic acid in the urine results were positive. The findings are compatible with the diagnosis of alkaptonuria. Given these findings, treatment was initiated, followed-up by other specialties and he was advised to avoid certain foods. Alkaptonuria, also called endogenous ochronosis, is a rare metabolic autosomal recessive disorder. It occurs by complete inhibition of homogentisic acid oxidase enzyme having its deposition in various tissues. Male patient, 52 years old, sought medical help complaining about progressive appearance of hyperchromic papules on the lateral edge of the second finger of both hands for 02 years. He also complained about darkening of urine, sperm and underwear. Incisional biopsy of second hand finger and test for homogentisic acid in the urine results were positive. The findings are compatible with the diagnosis of alkaptonuria. Given these findings, treatment was initiated, followed-up by other specialties and he was advised to avoid certain foods.
Author	Fernandez, Natalia Monteiro Mene, Yuri de Souza Lima Mariano, Priscila Coelho Castro, Carlos Gustavo Carneiro de Craide, Fernanda Helena Fonseca, Juliana Salvini Barbosa Martins da
AuthorAffiliation	1 Policlínica Geral do Rio de Janeiro (PGRJ) - Rio de Janeiro (RJ), Brazil 2 Universidade Federal do Estado do Rio de Janeiro (UNIRIO) - Rio de Janeiro (RJ), Brazil 3 Universidade do Estado do Rio de Janeiro (UERJ) - Rio de Janeiro (RJ), Brazil
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References	Shimizu I (ref8) 2007; 26 Pettit SJ (ref3) 2011; 34 Ranganath L (ref4) 2011; 34 Zatkova A (ref5) 2011; 34 Ramos-e-Silva M (ref6) 2008; 26 Cogan DG (ref9) 1966; 95 Ladizinski B (ref2) 2011; 29 Thomas M (ref1) 2011; 65 Romero SA (ref7) 2011; 86 John SS (ref10) 2009; 55 Thomas, M; Jebaraj, JI; Thomas, M; George, R 2011; 65 Shimizu, I; Hamada, T; Khalpey, Z; Miyanishi, K; Hara, T 2007; 26 John, SS; Padhan, P; Mathews, JV; David, S 2009; 55 Zatkova, A 2011; 34 Ramos-e-Silva, M; Chaves Azevedo-e-Silva, M; Carneiro, SC 2008; 26 Pettit, SJ; Fisher, M; Gallagher, JA; Ranganath, LR 2011; 34 Ranganath, L; Taylor, AM; Shenkin, A; Fraser, WD; Jarvis, J; Gallagher, JA 2011; 34 Romero, SA; Pereira, PM; Mariano, AV; Francesconi, F; Francesconi, VA 2011; 86 Cogan, DG 1966; 95 Ladizinski, B; Mistry, N; Kundu, RV 2011; 29
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Snippet	Alkaptonuria, also called endogenous ochronosis, is a rare metabolic autosomal recessive disorder. It occurs by complete inhibition of homogentisic acid... Alkaptonuria, also called endogenous ochronosis, is a rare metabolic autosomal recessive disorder. It occurs by complete inhibition of homogentisic acid...
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SubjectTerms	Alkaptonuria Alkaptonuria - pathology Biopsy Case Report DERMATOLOGY Homogentisic acid Humans Male Middle Aged Ochronosis Ochronosis - pathology Sclera - pathology Skin - pathology
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Title	Alkaptonuria--case report
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