{"id":30,"date":"2019-11-26T17:32:53","date_gmt":"2019-11-27T01:32:53","guid":{"rendered":"https:\/\/sarkeshik.com\/kiana\/?page_id=30"},"modified":"2024-07-26T18:30:13","modified_gmt":"2024-07-27T01:30:13","slug":"about","status":"publish","type":"page","link":"https:\/\/kianaresearchfoundation.org\/?page_id=30","title":{"rendered":"What is PCD"},"content":{"rendered":"\r\n<p class=\"wp-block-paragraph\">The Kiana Research Foundation supports research toward an effective treatment and a cure for Pyruvate Carboxylase Deficiency.<\/p>\r\n\r\n\r\n\r\n<p class=\"wp-block-paragraph\">Pyruvate carboxylase deficiency is a rare condition, with an estimated incidence of 1 in 250,000 births worldwide.<\/p>\r\n\r\n\r\n\r\n<p class=\"wp-block-paragraph\">Pyruvate carboxylase deficiency is an inherited disorder caused by mutations in the PC gene. The PCgene provides instructions for making an enzyme called Pyruvate Carboxylase in mitochondria.<\/p>\r\n\r\n\r\n\r\n\r\n\r\n<p class=\"wp-block-paragraph\">Pyruvate carboxylase (PC) deficiency is characterized in most affected individuals by failure to thrive, developmental delay, recurrent seizures, and metabolic acidosis. Three clinical types are recognized:<\/p>\r\n\r\n\r\n\r\n<div class=\"wp-block-group\">\r\n<div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\r\n<ul class=\"wp-block-list\">\r\n<li>Type A (infantile form), in which most affected children die in infancy or early childhood<\/li>\r\n<\/ul>\r\n\r\n\r\n\r\n<ul class=\"wp-block-list\">\r\n<li>Type B (severe neonatal form), in which affected infants have hepatomegaly, pyramidal tract signs, and abnormal movement and die within the first three months of life<\/li>\r\n<\/ul>\r\n\r\n\r\n\r\n<ul class=\"wp-block-list\">\r\n<li>Type C (intermittent\/benign form), in which affected individuals have normal or mildly delayed neurologic development and episodic metabolic acidosis.\u00a0<\/li>\r\n<\/ul>\r\n<\/div>\r\n<\/div>\r\n","protected":false},"excerpt":{"rendered":"<p>The Kiana Research Foundation supports research toward an effective treatment and a cure for Pyruvate Carboxylase Deficiency. Pyruvate carboxylase deficiency is a rare condition, with an estimated incidence of 1 in 250,000 births worldwide. Pyruvate carboxylase deficiency is&#8230; <a class=\"read-more\" href=\"https:\/\/kianaresearchfoundation.org\/?page_id=30\">Read More<\/a><\/p>\n","protected":false},"author":2,"featured_media":299,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"template-full.php","meta":{"footnotes":""},"class_list":["post-30","page","type-page","status-publish","has-post-thumbnail","hentry","no-comments"],"_links":{"self":[{"href":"https:\/\/kianaresearchfoundation.org\/index.php?rest_route=\/wp\/v2\/pages\/30","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/kianaresearchfoundation.org\/index.php?rest_route=\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/kianaresearchfoundation.org\/index.php?rest_route=\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/kianaresearchfoundation.org\/index.php?rest_route=\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/kianaresearchfoundation.org\/index.php?rest_route=%2Fwp%2Fv2%2Fcomments&post=30"}],"version-history":[{"count":6,"href":"https:\/\/kianaresearchfoundation.org\/index.php?rest_route=\/wp\/v2\/pages\/30\/revisions"}],"predecessor-version":[{"id":255,"href":"https:\/\/kianaresearchfoundation.org\/index.php?rest_route=\/wp\/v2\/pages\/30\/revisions\/255"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/kianaresearchfoundation.org\/index.php?rest_route=\/wp\/v2\/media\/299"}],"wp:attachment":[{"href":"https:\/\/kianaresearchfoundation.org\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=30"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}