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2.
ScientificWorldJournal ; 10: 1530-1, 2010 Aug 03.
Artigo em Inglês | MEDLINE | ID: mdl-20694448

RESUMO

Alkaptonuria is a rare, autosomal-recessive disease of tyrosine degradation resulting from accumulation of homogentisic acid (HGA) within the body due to deficiency of the hepatic enzyme homogentisate 1,2-dioxygenase[1]. HGD is the gene encoding homogentisate 1,2-dioxygenase and is the only gene known to be associated with alkaptonuria. In this patient the disease also manifested itself with symmetric blue-gray discoloration on the helix cartilage of his ears. The initial diagnosis of alkaptonuria was made some 20 years earlier because of the appearance of low back pain and dark urine. HGA is responsible for the black color of urine and is deposited in the cartilage of the body, including ears.


Assuntos
Alcaptonúria/diagnóstico , Orelha/patologia , Homogentisato 1,2-Dioxigenase/metabolismo , Ácido Homogentísico/metabolismo , Alcaptonúria/complicações , Alcaptonúria/genética , Predisposição Genética para Doença/genética , Homogentisato 1,2-Dioxigenase/genética , Ácido Homogentísico/urina , Humanos , Masculino , Pessoa de Meia-Idade , Transtornos da Pigmentação/complicações , Transtornos da Pigmentação/metabolismo , Transtornos da Pigmentação/urina
4.
Urologe A ; 42(1): 80-1, 2003 Jan.
Artigo em Alemão | MEDLINE | ID: mdl-14655641

RESUMO

Green urine, a well described condition, can be caused by a variety of agents. Here we describe a case of green urine caused by blue food colouring during tube feeding. In the article, we list more than 20 drugs, chemical agents and microorganisms which have been associated with green urine.


Assuntos
Benzenossulfonatos/farmacocinética , Nutrição Enteral , Corantes de Alimentos/farmacocinética , Alimentos Formulados , Falência Renal Crônica/cirurgia , Transplante de Rim , Transtornos da Pigmentação/urina , Complicações Pós-Operatórias/urina , Idoso , Benzenossulfonatos/administração & dosagem , Diagnóstico Diferencial , Feminino , Corantes de Alimentos/administração & dosagem , Humanos , Taxa de Depuração Metabólica/fisiologia
8.
Clin Chem ; 21(6): 725-9, 1975 May.
Artigo em Inglês | MEDLINE | ID: mdl-1122616

RESUMO

We compared the sphingolipid content of urine from a patient with Farber's disease with that of control urine. The ceramides were measured by high-performance liquid chromatography. The patient's urine contained 1.2 mug of ceramides per milligram of creatinine, more than 200-fold the normal amount. The urinary ceramides were isolated by high-performance liquid chromatography for further identification. They contained mainly nonhydroxy fatty acids and only a small quantity of those with 2-hydroxy fatty acids. This contrasts with the previously described composition of the patient's renal and cerebellar tissue. The fatty acid and long-chain base compositions of the urinary ceramides containing nonhydroxy fatty acids were nearly identical to those of the patient's kidney.


Assuntos
Ceramidas/urina , Lipidoses/urina , Ceramidas/metabolismo , Cerebrosídeos/urina , Colesterol/urina , Cromatografia , Álcoois Graxos/urina , Humanos , Deficiência Intelectual/urina , Rim/metabolismo , Leucodistrofia Metacromática/urina , Lipídeos/isolamento & purificação , Lipídeos/urina , Masculino , Transtornos da Pigmentação/urina , Espectrofotometria Infravermelho , Esfingomielinas/urina , Sulfoglicoesfingolipídeos/urina
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