{"id":245,"date":"2022-03-15T13:30:42","date_gmt":"2022-03-15T18:30:42","guid":{"rendered":"https:\/\/www.infomedicintl.com\/?page_id=245"},"modified":"2022-03-15T13:32:23","modified_gmt":"2022-03-15T18:32:23","slug":"servicios-ngs-enfermedades-metabolicas","status":"publish","type":"page","link":"https:\/\/www.infomedicintl.com\/index.php\/servicios-ngs-enfermedades-metabolicas\/","title":{"rendered":"Servicios NGS \/ Enfermedades Metab\u00f3licas"},"content":{"rendered":"\n

Presentamos un listado de las m\u00faltiples enfermedades metab\u00f3licas que se pueden detectar a trav\u00e9s de la secuenciaci\u00f3n ex\u00f3mica:<\/strong><\/p>\n\n\n\n

Enfermedad de la orina con jarabe de arce
Fenilcetonuria
Deficiencia de tetrahidrobiopterina
Tirosinemia I
Tirosinemia II
Tirosinemia III
Citrulinemia I
Citrulinemia II
Argininemia
Deficiencia de Ornitina Transcarbamilasa
Hiperornitinemia con giralatrofia
Deficiencia de Carbamil Fosfato Sintasa
Deficiencia de N-acetilglutamato sintasa
Aciduria argininosucc\u00ednica
Homocisteinemia
Hipermetioninemia Hiperornitinemia S\u00edndrome de homocitrulinuria
Hiperamonemia
Hiperornitinemia
Hiperglicinemia no cet\u00f3sica
Histidinemia
Hipervlinemia
Acidemia metilmal\u00f3nica
Acidemia propi\u00f3nica
Deficiencia de 2-Metilbutiril CoA Deshidrogenasa
Acidemia isoval\u00e9rica
Deficiencia de 3-metil Crotonil CoA Carboxilasa
Aciduria 3-metilglutac\u00f3nica
Deficiencia de 2-metil-3-hidroxibutiril CoA deshidrogenasa
Deficiencia de carboxilasa m\u00faltiple
Deficiencia de 3-Hidroxi-3-Metilglutail-coenzima A Liasa
Deficiencia de Beta-Cetotiolasa
Deficiencia de Isobutiril-CoA deshidrogenasa
Acidemia glut\u00e1rica tipo I
Deficiencia de carnitina palmitoil transferasa tipo I
Deficiencia de carnitina palmitoil transferasa tipo II
Defecto de captaci\u00f3n de carnitina
Deficiencia de acilcoa deshidrogenasa de cadena corta
Deficiencia de acilcoa deshidrogenasa de cadena media
Deficiencia de Acil Coa Deshidrogenasa de Cadena Muy Larga
Deficiencia de hidroxi-coa deshidrogenasa de cadena media\/corta
Deficiencia de 3 hidroxi-coa de cadena larga deshidrogenasa
Deficiencia de Malonil-CoA Descarboxilasa
Encefalopat\u00eda etilmal\u00f3nica
Deficiencia de carnitina\/acilcarnitina translocasa
Deficiencia de prote\u00edna trifuncional
Acidemia Glut\u00e1rica Tipo II
Deficiencia de 3-cetoacil CoA tiolasa de cadena media
Deficiencia de 2,4- Dienil-CoA Reductasa<\/p>\n\n\n\n

<\/p>\n\n\n\n

<\/p>\n\n\n\n

English Version<\/p>\n\n\n\n

We present a list of the many metabolic diseases that can be detected by exome sequencing:<\/p>\n\n\n\n

Maple Syrup Urine Disease
Phenylketonuria
Tetrahydrobiopterin Deficiency
Tyrosinemia I
Tyrosinemia II
Tyrosinemia III
Citrullinemia I
Citrullinemia II
Argininemia
Ornithine Transcarbamylase Defeciency
Hyperornithinemia with Gyralatrophy
Carbamyl Phosphate Synthase Deficiency
N-Acetyglutamate Synthase Deficiency
Argininosuccinic Aciduria
Homocysteinemia
Hypermethioninemia Hyperornithinemia Homocitrullinuria Syndrome
Hyperammonemia
Hyperornithinemia
Non Ketotic Hyperglycinemia
Histidinemia
Hypervlinemia
Methyl Malonic Acidemia
Propionic Acidemia
2-Methylbutyryl CoA Dehydrogenase Deficiency
Isovaleric Acidemia
3-Methyl Crotonyl CoA Carboxylase Deficiency
3-Methyl Glutaconic Aciduria
2-Methyl-3-Hydroxybutyryl CoA Dehydrogenase Deficiency
Multiple Carboxylase Deficiency
3-Hydroxy-3-Methylglutayl-coenzyme A Lyase Deficiency
Beta-Ketothiolase Deficiency
Isobutyryl-CoA Dehydrogenase Deficiency
Glutaric acidemia Type I
Carnitine Palmitoyl Transferase Deficiency Type I
Carnitine Palmitoyl Transferase Deficiency Type II
Carnitine Uptake Defect
Short Chain Acyl Coa Dehydrogenase Deficiency
Medium Chain Acyl Coa Dehydrogenase Deficiency
Very Long Chain Acyl Coa Dehydrogenase Deficiency
Medium\/Short Chain Hydroxy Acyl Coa Dehydrogenase Deficiency
3 Hydroxy Long Chain Acyl Coa Dehydrogenase Deficiency
Malonyl-CoA Decarboxylase Deficiency
Ethylmalonic Encephalopathy
Carnitine\/Acylcarnitine Translocase Deficiency
Trifunctional Protein Deficiency
Glutaric Acidemia Type II
Medium Chain 3- Ketoacyl CoA Thiolase Deficiency
2,4- Dienyl-CoA Reductase Deficiency<\/p>\n","protected":false},"excerpt":{"rendered":"

Presentamos un listado de las m\u00faltiples enfermedades metab\u00f3licas que se pueden detectar a trav\u00e9s de la secuenciaci\u00f3n ex\u00f3mica: Enfermedad de la orina con jarabe de arceFenilcetonuriaDeficiencia de tetrahidrobiopterinaTirosinemia ITirosinemia IITirosinemia IIICitrulinemia ICitrulinemia IIArgininemiaDeficiencia de Ornitina TranscarbamilasaHiperornitinemia con giralatrofiaDeficiencia de Carbamil Fosfato SintasaDeficiencia de N-acetilglutamato sintasaAciduria argininosucc\u00ednicaHomocisteinemiaHipermetioninemia Hiperornitinemia S\u00edndrome de homocitrulinuriaHiperamonemiaHiperornitinemiaHiperglicinemia no cet\u00f3sicaHistidinemiaHipervlinemiaAcidemia metilmal\u00f3nicaAcidemia propi\u00f3nicaDeficiencia de … Continue reading “Servicios NGS \/ Enfermedades Metab\u00f3licas”<\/span><\/a><\/p>\n","protected":false},"author":1,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_sb_is_suggestion_mode":false,"_sb_show_suggestion_boards":false,"_sb_show_comment_boards":false,"_sb_suggestion_history":"","_sb_update_block_changes":"","footnotes":""},"class_list":["post-245","page","type-page","status-publish","hentry"],"_links":{"self":[{"href":"https:\/\/www.infomedicintl.com\/index.php\/wp-json\/wp\/v2\/pages\/245","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.infomedicintl.com\/index.php\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/www.infomedicintl.com\/index.php\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/www.infomedicintl.com\/index.php\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.infomedicintl.com\/index.php\/wp-json\/wp\/v2\/comments?post=245"}],"version-history":[{"count":3,"href":"https:\/\/www.infomedicintl.com\/index.php\/wp-json\/wp\/v2\/pages\/245\/revisions"}],"predecessor-version":[{"id":248,"href":"https:\/\/www.infomedicintl.com\/index.php\/wp-json\/wp\/v2\/pages\/245\/revisions\/248"}],"wp:attachment":[{"href":"https:\/\/www.infomedicintl.com\/index.php\/wp-json\/wp\/v2\/media?parent=245"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}