{"id":22246,"date":"2022-08-31T07:18:09","date_gmt":"2022-08-31T07:18:09","guid":{"rendered":"https:\/\/catweb.ro\/babydetect\/?p=22246"},"modified":"2023-05-04T08:34:55","modified_gmt":"2023-05-04T08:34:55","slug":"pyridoxine-dependent-epilepsy-aldh7a1-gene","status":"publish","type":"post","link":"https:\/\/www.babydetect.be\/en\/pyridoxine-dependent-epilepsy-aldh7a1-gene\/","title":{"rendered":"Pyridoxine-Dependent Epilepsy"},"content":{"rendered":"<p>ALDH7A1 gene<\/p>\n<p><u>Also known as<\/u>: AASADH Deficiency,\u00a0ALDH7A1\u00a0Deficiency, Alpha Aminoadipic Semialdehyde (\u03b1-AASA) Dehydrogenase Deficiency, Antiquitin (ATQ) Deficiency, PDE-ALDH7A1<\/p>\n<p>OMIM#266100 <a href=\"https:\/\/omim.org\/entry\/266100\">https:\/\/omim.org\/entry\/266100<\/a><\/p>\n<h4>1. The disease<\/h4>\n<p>Pyridoxine-dependent epilepsy \u2013 ALDH7A1 (PDE-ALDH7A1) is a rare neurometabolic disease characterized by recurrent intractable seizures in the prenatal, neonatal and postnatal period characterized not well controlled with anti-seizure medications that are responsive clinically and electrographically to large daily supplements of pyridoxine (vitamin B6).<\/p>\n<h4>2. The Symptoms<\/h4>\n<p>Phenotypic spectrum that ranges from classic to atypical PDE-<em>ALDH7A1<\/em>.\u00a0Intellectual disability is common, particularly in classic PDE-<em>ALDH7A1<\/em>. <em>Lack of early signs or symptoms does not exclude the diagnosis.<\/em><\/p>\n<ul>\n<li><em><u>Classic PDE-ALDH7A1<\/u><\/em>: Untreated seizures begin within the first weeks to months of life. Dramatic presentations of prolonged seizures and recurrent episodes of status epilepticus are typical; recurrent self-limited events including partial seizures, generalized seizures, atonic seizures, myoclonic events, and infantile spasms also occur. Electrographic seizures can occur without clinical correlates.<\/li>\n<li><em><u>Atypical PDE-ALDH7A1<\/u><\/em>:\u00a0Findings in untreated individuals can include late-onset seizures beginning between late infancy and age three years, seizures that initially respond to anti-seizure medications and then become intractable, seizures during early life that do not respond to pyridoxine but are subsequently controlled with pyridoxine several months later, and prolonged seizure-free intervals (\u22645 months) that occur after discontinuation of pyridoxine.<\/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 pathogenic variants or 2 copies of a single pathogenic variant <em>in ALDH7A1 gene<\/em>) should continue breastfeeding.<\/li>\n<li><u>Early treatment is essential in preventing chronic symptoms<\/u>.<\/li>\n<li>Biochemical correlation is essential for confirming diagnosis with increased concentration of \u03b1-aminoadipic semialdehyde (\u03b1-AASA) in urine and\/or plasma.<\/li>\n<li>PDE-<em>ALDH7A1<\/em> is a lifelong disease that requires lifetime management and regular follow-up with a metabolic physician and dietician, a part from a multidisciplinary approach to care.<\/li>\n<li>The International PDE Consortium has published clinical practice guidelines for PDE-<em>ALDH7A1<\/em>. Effective treatment requires lifelong pharmacologic supplements of pyridoxine; the rarity of the disorder has precluded controlled studies to evaluate the optimal dose. The guidelines recommend the following doses by age: newborns 100 mg\/day; infants 30 mg\/kg\/day with a maximum of 300 mg\/day; and children, adolescents, and adults 30 mg\/kg\/day with a maximum of 500 mg\/day. To prevent exacerbation of clinical seizures and\/or encephalopathy during an acute illness, the daily dose of pyridoxine may be doubled for several days.<\/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>\u00a04. For more information<\/h4>\n<p><strong>Orphanet:<\/strong> <a href=\"https:\/\/www.orpha.net\/consor4.01\/www\/cgi-bin\/Disease_Search.php?lng=EN&amp;data_id=880&amp;Disease_Disease_Search_diseaseGroup=ALDH7A1&amp;Disease_Disease_Search_diseaseType=Gen&amp;Disease(s)\/group%20of%20diseases=Pyridoxine-dependent-epilepsy&amp;title=Pyridoxine-dependent%20epilepsy&amp;search=Disease_Search_Simple\">https:\/\/www.orpha.net\/consor4.01\/www\/cgi-bin\/Disease_Search.php?lng=EN&amp;data_id=880&amp;Disease_Disease_Search_diseaseGroup=ALDH7A1&amp;Disease_Disease_Search_diseaseType=Gen&amp;Disease(s)\/group%20of%20diseases=Pyridoxine-dependent-epilepsy&amp;title=Pyridoxine-dependent%20epilepsy&amp;search=Disease_Search_Simple<\/a><\/p>\n<p><strong>Biblio:<\/strong> <u>https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1486\/<\/u><\/p>\n","protected":false},"excerpt":{"rendered":"<p>ALDH7A1 gene Also known as: AASADH Deficiency,\u00a0ALDH7A1\u00a0Deficiency, Alpha Aminoadipic Semialdehyde (\u03b1-AASA) Dehydrogenase Deficiency, Antiquitin (ATQ) Deficiency, PDE-ALDH7A1 OMIM#266100 https:\/\/omim.org\/entry\/266100 1. The disease Pyridoxine-dependent epilepsy \u2013 ALDH7A1 (PDE-ALDH7A1) is a rare neurometabolic disease characterized by recurrent intractable seizures in the prenatal, neonatal and postnatal period characterized not well controlled with anti-seizure medications that are responsive clinically&#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\/22246"}],"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=22246"}],"version-history":[{"count":1,"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/posts\/22246\/revisions"}],"predecessor-version":[{"id":23474,"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/posts\/22246\/revisions\/23474"}],"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=22246"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/categories?post=22246"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/tags?post=22246"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}