{"id":22260,"date":"2022-08-31T07:33:44","date_gmt":"2022-08-31T07:33:44","guid":{"rendered":"https:\/\/catweb.ro\/babydetect\/?p=22260"},"modified":"2023-05-04T08:21:40","modified_gmt":"2023-05-04T08:21:40","slug":"very-long-chain-acyl-coa-dehydrogenase-deficiency-vlcad-acadvl-gene","status":"publish","type":"post","link":"https:\/\/www.babydetect.be\/en\/very-long-chain-acyl-coa-dehydrogenase-deficiency-vlcad-acadvl-gene\/","title":{"rendered":"Very Long Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD)"},"content":{"rendered":"<p>ACADVL gene<\/p>\n<p><em>Also known as<\/em>: VLCAD deficiency <strong>OMIM#201475 <\/strong><strong>https:\/\/omim.org\/entry\/201475<\/strong><\/p>\n<h4>1. The Disease<\/h4>\n<p>Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is an inherited disorder of mitochondrial long-1. chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis.<\/p>\n<h4>2. The Symptoms<\/h4>\n<p>Infants are usually <strong><u>asymptomatic<\/u><\/strong> at birth. <em>Lack of early signs or symptoms does not exclude the diagnosis.<\/em> VLCADD is a clinically heterogeneous disease, with 3 major phenotypes:<\/p>\n<ul>\n<li>Severe infantile VLCADD has an early onset, usually within the first 3-12 months of life and as early as the neonatal period, with high mortality and a high incidence of hypoketotic hypoglycaemia, liver disease, cardiac arrhythmias and cardiomyopathy. Pericardial effusion is also reported.<\/li>\n<li>Moderately severe infantile\/childhood VLCADD has a later onset (early neonatal period to early childhood) and usually presents with hypoketotic hypoglycemia, lower mortality and rarely cardiomyopathy.<\/li>\n<li>Late-onset myopathic VLCADD presents in older children and young adults (usually &gt;10 years of age) with isolated skeletal muscle involvement, exercise intolerance, myalgia, rhabdomyolysis and myoglobinuria usually triggered by exercise, fasting, cold\/heat and\/or stress but viral infection can also precipitate\/exacerbate this presentation. <em>In rare cases it can lead to renal failure and can be fatal<\/em>. Some patients presenting with myopathic disease may have a previous history of hypoglycemia in infancy\/childhood.<\/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 mutations in the <em>ACADVL<\/em> gene) should continue breastfeeding.<\/li>\n<li>Babies with a positive genetic test should have confirmatory VLCAD testing through one of the following methods:<\/li>\n<li>Tandem mass spectrometry (MS\/MS) for the detection of elevated levels of C14:1 and C14:1\/C12:1 ratios together with elevations of C12, C16, C16:1, C18 and C18:1 species. Occasionally patients with the myopathic form can give an essentially normal profile when metabolically stable.<\/li>\n<li>Crisis urine organic acid analysis generally shows a non-specific abnormal pattern of C6-C14 dicarboxylic and hydroxydicarboxylic acids.<\/li>\n<li>VLCAD is a lifelong disease that requires lifetime compliance to dietary management and regular follow-up with a metabolic disease specialist and a multidisciplinary approach.<\/li>\n<li>Early treatment, through fatty acid restriction and the <strong><em><u>avoidance of prolonged periods of fasting<\/u><\/em><\/strong>, is essential in preventing metabolic crises and chronic symptoms, such as hepatic and muscle impairment.<\/li>\n<li>Diet consists of low long-chain fat source in combination with medium chain triglycerides.<\/li>\n<li>The prognosis for VLCAD is very favorable with lifetime compliance to a low-fat diet and 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> https:\/\/www.orpha.net\/consor\/cgi-bin\/Disease_Search.php?lng=EN&amp;data_id=8768&amp;Disease_Disease_Search_diseaseGroup=ACADVL&amp;Disease_Disease_Search_diseaseType=Gen&amp;Disease(s)\/group%20of%20diseases=Very-long-chain-acyl-CoA-dehydrogenase-deficiency&amp;title=Very%20long%20chain%20acyl-CoA%20dehydrogenase%20deficiency&amp;search=Disease_Search_Simple<\/p>\n<p><strong>Biblio:<\/strong> <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK6816\/\">https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK6816\/<\/a><\/p>\n","protected":false},"excerpt":{"rendered":"<p>ACADVL gene Also known as: VLCAD deficiency OMIM#201475 https:\/\/omim.org\/entry\/201475 1. The Disease Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is an inherited disorder of mitochondrial long-1. chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis. 2. The Symptoms Infants are usually asymptomatic at birth. Lack of&#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\/22260"}],"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=22260"}],"version-history":[{"count":1,"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/posts\/22260\/revisions"}],"predecessor-version":[{"id":23466,"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/posts\/22260\/revisions\/23466"}],"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=22260"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/categories?post=22260"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/tags?post=22260"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}