{"id":12736,"date":"2025-07-22T08:25:02","date_gmt":"2025-07-22T12:25:02","guid":{"rendered":"https:\/\/www.rigicon.com\/glossary-term\/amino-aciduria\/"},"modified":"2026-10-06T12:50:55","modified_gmt":"2026-10-06T16:50:55","slug":"aminoaciduria-pt-br","status":"publish","type":"glossary-term","link":"https:\/\/www.rigicon.com\/pt-br\/glossary-term\/aminoaciduria-pt-br\/","title":{"rendered":"Aminoacid\u00faria"},"content":{"rendered":"","protected":false},"excerpt":{"rendered":"","protected":false},"featured_media":0,"template":"","glossary-category":[126],"glossary-product":[108,107],"class_list":["post-12736","glossary-term","type-glossary-term","status-publish","hentry","glossary-category-urological-conditions","glossary-product-conticlassic-aus","glossary-product-contireflex-enhanced-aus"],"acf":{"gt-definition":"<p>Aminoacid\u00faria refere-se \u00e0 presen\u00e7a de amino\u00e1cidos em excesso na urina, frequentemente indicando um dist\u00farbio metab\u00f3lico.<sup>1<\/sup> Essa condi\u00e7\u00e3o ocorre quando a urina cont\u00e9m quantidades anormalmente altas de amino\u00e1cidos, que s\u00e3o os componentes b\u00e1sicos das prote\u00ednas do corpo.<sup>2<\/sup> Em um rim saud\u00e1vel, os glom\u00e9rulos filtram todos os amino\u00e1cidos do sangue, e os t\u00fabulos renais ent\u00e3o reabsorvem mais de 95% dos amino\u00e1cidos filtrados de volta para o sangue.<sup>3<\/sup><\/p>\n\n    <p>A aminoacid\u00faria pode ser classificada em dois tipos principais, com base no mecanismo subjacente:<\/p>\n\n    <p>1. <strong>Aminoacid\u00faria por transbordamento<\/strong>: Ocorre quando concentra\u00e7\u00f5es anormalmente altas de amino\u00e1cidos no plasma sangu\u00edneo superam a capacidade de reabsor\u00e7\u00e3o dos t\u00fabulos renais, resultando em altas concentra\u00e7\u00f5es de amino\u00e1cidos na urina.<sup>4<\/sup> Pode ser causada por dist\u00farbios cong\u00eanitos do metabolismo dos amino\u00e1cidos, como a fenilceton\u00faria, ou pode ser secund\u00e1ria a doen\u00e7a hep\u00e1tica.<sup>3<\/sup><\/p>\n\n    <p>2. <strong>Aminoacid\u00faria renal<\/strong>: Ocorre quando os t\u00fabulos renais s\u00e3o incapazes de reabsorver os amino\u00e1cidos filtrados de volta para o sangue, causando altas concentra\u00e7\u00f5es de amino\u00e1cidos na urina.<sup>5<\/sup> Pode ser causada por um defeito nas prote\u00ednas de transporte do t\u00fabulo renal, como ocorre na doen\u00e7a de Hartnup, ou pode ser decorrente de les\u00e3o do t\u00fabulo renal, como ocorre na s\u00edndrome de Fanconi.<sup>4<\/sup><\/p>\n\n    <p>As aminoacid\u00farias heredit\u00e1rias s\u00e3o causadas por transporte defeituoso de amino\u00e1cidos atrav\u00e9s dos epit\u00e9lios renais (reabsor\u00e7\u00e3o) e, em muitos casos, tamb\u00e9m do intestino delgado (absor\u00e7\u00e3o).<sup>6<\/sup> Esses dist\u00farbios podem afetar o metabolismo de amino\u00e1cidos espec\u00edficos ou de grupos de amino\u00e1cidos, levando ao seu ac\u00famulo no sangue e \u00e0 subsequente excre\u00e7\u00e3o na urina.<sup>7<\/sup><\/p>","gt-synonyms":"Amino\u00e1cidos - urina, Amino\u00e1cidos urin\u00e1rios, Hiperaminoacid\u00faria, Aminoacidopatia, Aminoacid\u00faria renal, Aminoacid\u00faria por transbordamento, Aminoacid\u00faria generalizada","gt-citation":"[1] Aliu E, Kanungo S, Arnold GL. Amino acid disorders. Ann Transl Med. 2018 Dec;6(24):471. DOI: 10.21037\/atm.2018.12.12\n\n[2] \"Aminoaciduria\". Mosby's Medical Dictionary (9th ed.). Mosby. 2013. p. 79. ISBN 9780323112581.\n\n[3] Sch\u00fcck, O (1984). \"Amino acids excretion. Physiology and pathophysiology\". Examination of Kidney Function. Translated by Cort, JH. Dordrecht: Springer Netherlands. p. 252. ISBN 9789400956605.\n\n[4] Crook, Martin Andrew (2012). \"Chapter 27: Inborn errors of metabolism\". Clinical biochemistry and metabolic medicine (8th ed.). London: Hodder Arnold. pp. 371\u2013383. ISBN 9781444144154.\n\n[5] Mundt, LA; Shanahan, K (2011). \"Chapter 7: Urinary and metabolic diseases and related urinalysis findings. Aminoacidurias\". Graff's textbook of routine urinalysis and body fluids (2nd ed.). Philadelphia: Wolters Kluwer\/Lippincott Williams & Wilkins Health. pp. 203\u2013210. ISBN 9781582558752.\n\n[6] \"Aminoaciduria\". ScienceDirect Topics. Elsevier. https:\/\/www.sciencedirect.com\/topics\/medicine-and-dentistry\/aminoaciduria\n\n[7] Ziegler SG, Kim J, Ehmsen JT, Vernon HJ. Inborn errors of amino acid metabolism \u2013 from underlying pathophysiology to therapeutic advances. Dis Model Mech. 2023;16(11):dmm050233. DOI: 10.1242\/dmm.050233. PMID: 37994477","gt-clinical-context":"<p>A aminoacid\u00faria \u00e9 clinicamente significativa, pois frequentemente funciona como biomarcador de diversos dist\u00farbios metab\u00f3licos, particularmente erros inatos do metabolismo dos amino\u00e1cidos.<sup>1<\/sup> Na pr\u00e1tica cl\u00ednica, a aminoacid\u00faria \u00e9 detectada por meio da an\u00e1lise de amino\u00e1cidos na urina, que normalmente \u00e9 realizada quando h\u00e1 suspeita de um dist\u00farbio metab\u00f3lico com base no quadro cl\u00ednico ou como parte do acompanhamento da triagem neonatal.<sup>7<\/sup><\/p>\n\n    <p>A signific\u00e2ncia cl\u00ednica da aminoacid\u00faria varia conforme a causa subjacente:<\/p>\n\n    <p>1. <strong>Valor diagn\u00f3stico<\/strong>: Os padr\u00f5es de aminoacid\u00faria podem ajudar a identificar dist\u00farbios metab\u00f3licos espec\u00edficos. Por exemplo, a fenilceton\u00faria (PKU) caracteriza-se por fenilalanina elevada tanto no sangue quanto na urina.<sup>1<\/sup> Da mesma forma, a doen\u00e7a da urina do xarope de bordo apresenta eleva\u00e7\u00e3o dos amino\u00e1cidos de cadeia ramificada.<sup>7<\/sup><\/p>\n\n    <p>2. <strong>Crit\u00e9rios de sele\u00e7\u00e3o de pacientes<\/strong>: Os pacientes que podem necessitar de exame de amino\u00e1cidos na urina incluem aqueles com atraso do desenvolvimento inexplicado, sintomas neurol\u00f3gicos, odor incomum, d\u00e9ficit de crescimento ou hist\u00f3rico familiar de dist\u00farbios metab\u00f3licos.<sup>5<\/sup><\/p>\n\n    <p>3. <strong>Manejo cl\u00ednico<\/strong>: Para muitos dist\u00farbios de amino\u00e1cidos, a restri\u00e7\u00e3o diet\u00e9tica do amino\u00e1cido respons\u00e1vel \u00e9 a base do tratamento.<sup>1<\/sup> Essa abordagem levou \u00e0 evolu\u00e7\u00e3o do campo da \"Nutri\u00e7\u00e3o Metab\u00f3lica\".<sup>1<\/sup> Por exemplo, na PKU, dietas com restri\u00e7\u00e3o de fenilalanina t\u00eam sido bem-sucedidas na preven\u00e7\u00e3o da defici\u00eancia intelectual quando iniciadas precocemente.<sup>1<\/sup><\/p>\n\n    <p>4. <strong>Resultados esperados<\/strong>: O diagn\u00f3stico precoce e o manejo adequado dos dist\u00farbios de amino\u00e1cidos podem melhorar significativamente os desfechos. Sem tratamento, muitos desses dist\u00farbios podem levar a defici\u00eancia intelectual, atraso do desenvolvimento, dano neurol\u00f3gico e, em alguns casos, morte.<sup>1<\/sup> No entanto, com manejo adequado, muitos pacientes conseguem levar uma vida relativamente normal.<sup>7<\/sup><\/p>\n\n    <p>Na s\u00edndrome de Fanconi, uma caracter\u00edstica cardinal \u00e9 a aminoacid\u00faria generalizada, na qual praticamente todos os amino\u00e1cidos s\u00e3o encontrados em excesso na urina.<sup>6<\/sup> No entanto, normalmente n\u00e3o h\u00e1 consequ\u00eancias cl\u00ednicas desse aspecto espec\u00edfico da s\u00edndrome, porque as perdas s\u00e3o insignificantes em rela\u00e7\u00e3o \u00e0 ingest\u00e3o alimentar.<sup>6<\/sup><\/p>\n\n    <p>A triagem de lactentes para n\u00edveis aumentados de amino\u00e1cidos pode ajudar a detectar precocemente problemas no metabolismo. O tratamento precoce dessas condi\u00e7\u00f5es pode prevenir complica\u00e7\u00f5es no futuro.<sup>2<\/sup><\/p>","gt-related-evidence":null,"gt-featured":true,"gt-ai-referenced":false,"gt-view-count":154},"yoast_head":"<!-- This site is optimized with the Yoast SEO Premium plugin v28.7 (Yoast SEO v28.7) - https:\/\/yoast.com\/product\/yoast-seo-premium-wordpress\/ -->\n<title>Aminoacid\u00faria: Causas, Diagn\u00f3stico e Tratamento | Rigicon<\/title>\n<meta name=\"description\" content=\"Saiba sobre aminoacid\u00faria, excre\u00e7\u00e3o anormal de amino\u00e1cidos na urina. 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