{"id":22254,"date":"2022-08-31T07:27:50","date_gmt":"2022-08-31T07:27:50","guid":{"rendered":"https:\/\/catweb.ro\/babydetect\/?p=22254"},"modified":"2023-05-04T08:25:20","modified_gmt":"2023-05-04T08:25:20","slug":"beta-ketothiolase-deficiency-t2-acat1-gene","status":"publish","type":"post","link":"https:\/\/www.babydetect.be\/en\/beta-ketothiolase-deficiency-t2-acat1-gene\/","title":{"rendered":"Beta-ketothiolase deficiency (T2)"},"content":{"rendered":"<p>ACAT1 gene<\/p>\n<p><u>Also known as:<\/u> T2 deficiency; 2-methyl-3-hydroxybutyric acidemia; mitochondrial acetoacetyl-coa thiolase deficiency \u2013 MAT deficiency; 3-oxothiolase deficiency<\/p>\n<p><strong>OMIM#203750 <\/strong><a href=\"https:\/\/omim.org\/entry\/203750\"><strong>https:\/\/omim.org\/entry\/203750<\/strong><\/a><\/p>\n<h4>1. The disease<\/h4>\n<p>Beta-ketothiolase deficiency is a rare, genetic organic aciduria affecting ketone body metabolism and the catabolism of isoleucine. This condition is caused by mutations in the <em>ACAT1<\/em> gene &#8211; a mutation must be present in the copies inherited from both the mother and the father &#8211; for the disease to manifest itself. If, however, patients are properly diagnosed, inexpensive preventive measures as avoid fasting can be effective, and normal development is expected.<\/p>\n<h4>2. The Symptoms<\/h4>\n<p>Babies are expected to be <strong><u>asymptomatic<\/u><\/strong> at birth and in the first weeks of life. Symptoms often appear between the fifth months to the second year of life, but onset as early as 2 days has been reported. <em>Lack of early signs or symptoms does not exclude the diagnosis.<\/em><\/p>\n<ul>\n<li>Infants can present with vomiting, lethargy, rapid respiration, metabolic acidosis with normal glucose and intermittent ketoacidosis. Hyperglycemia or hypoglycemia may be present in almost 30% of the patients (Nguyen et al. 2017). Severe crisis can lead to coma.<\/li>\n<li>Some patients who experience severe ketoacidosis can develop psychomotor retardation or fatal outcomes.<\/li>\n<li>Hyperglycemia or hypoglycemia may be observed (glucose levels range from 15-260mg\/dL) during ketoacidotic episodes during neonatal periods or infancy and ammonia is expected to be normal or slightly high with no need for hemodialysis (just rare cases). <em><u>It is vital to avoid an initial misdiagnosis of diabetic ketoacidosis<\/u><\/em>.<\/li>\n<\/ul>\n<h4>3. Actions to take in case of early diagnosis<\/h4>\n<ul>\n<li>Babies with a positive genetic test (having 2 mutations or 2 copies of a single mutation in the <em>ACAT1<\/em> gene) should continue breastfeeding. <em>Early treatment is essential in preventing chronic symptoms.<\/em><\/li>\n<li>Early treatment, <strong>avoidance of prolonged periods of fasting<\/strong>, is crucial in preventing metabolic crises and chronic symptoms, such as neurologic impairment.<\/li>\n<li>Biochemical diagnosis is essential for confirming diagnosis with acylcarnitine analysis or urinary organic acid analysis. Be aware that mild forms of the disorder (mild genotype also) can present <strong>no<\/strong> biochemical abnormalities.<\/li>\n<li>T2 is a lifelong disease that requires lifetime compliance to dietary management (<strong><em>specially fasting avoidance<\/em><\/strong>) and regular follow-up with a metabolic disease specialist and a multidisciplinary approach to care, including pediatrics, genetics and nutrition.<\/li>\n<li>The prognosis for T2 is very favorable with lifetime compliance to fractionated meals.<\/li>\n<li>Genetic counseling is highly recommended for family planning and evaluation of at-risk family members such as siblings.<\/li>\n<\/ul>\n<h4>4. For more information<\/h4>\n<p><strong>Orphanet:<\/strong> <a href=\"https:\/\/www.orpha.net\/consor\/cgi-bin\/Disease_Search.php?lng=EN&amp;data_id=713&amp;Disease_Disease_Search_diseaseGroup=Beta-ketothiolase-deficiency&amp;Disease_Disease_Search_diseaseType=Pat&amp;Disease(s)\/group%20of%20diseases=Beta-ketothiolase-deficiency&amp;title=Beta-ketothiolase%20deficiency&amp;search=Disease_Search_Simple\">https:\/\/www.orpha.net\/consor\/cgi-bin\/Disease_Search.php?lng=EN&amp;data_id=713&amp;Disease_Disease_Search_diseaseGroup=Beta-ketothiolase-deficiency&amp;Disease_Disease_Search_diseaseType=Pat&amp;Disease(s)\/group%20of%20diseases=Beta-ketothiolase-deficiency&amp;title=Beta-ketothiolase%20deficiency&amp;search=Disease_Search_Simple<\/a><\/p>\n<p><strong>Biblio:<\/strong> Gr\u00fcnert SC, Schmitt RN, Schlatter SM, et al. Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency. Mol Genet Metab. 2017;122(1-2):67-75. doi:10.1016\/j.ymgme.2017.06.012. PMID: 28689740.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>ACAT1 gene Also known as: T2 deficiency; 2-methyl-3-hydroxybutyric acidemia; mitochondrial acetoacetyl-coa thiolase deficiency \u2013 MAT deficiency; 3-oxothiolase deficiency OMIM#203750 https:\/\/omim.org\/entry\/203750 1. The disease Beta-ketothiolase deficiency is a rare, genetic organic aciduria affecting ketone body metabolism and the catabolism of isoleucine. This condition is caused by mutations in the ACAT1 gene &#8211; a mutation must be&#8230;<\/p>\n","protected":false},"author":1,"featured_media":21845,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[40],"tags":[],"_links":{"self":[{"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/posts\/22254"}],"collection":[{"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/comments?post=22254"}],"version-history":[{"count":1,"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/posts\/22254\/revisions"}],"predecessor-version":[{"id":23470,"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/posts\/22254\/revisions\/23470"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/media\/21845"}],"wp:attachment":[{"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/media?parent=22254"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/categories?post=22254"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/tags?post=22254"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}