{"id":27699,"date":"2025-06-24T16:49:45","date_gmt":"2025-06-24T13:49:45","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize-fara-categorie\/lipa-analiza-enzimatica-lipaza-acida-lizozomala-lal\/"},"modified":"2026-06-30T17:23:19","modified_gmt":"2026-06-30T14:23:19","slug":"lipa-analiza-enzimatica-lipaza-acida-lizozomala-lal","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/lipa-analiza-enzimatica-lipaza-acida-lizozomala-lal\/","title":{"rendered":"LIPA &#8211; Analiza enzimatica lipaza acida lizozomala (LAL)"},"content":{"rendered":"<p>Lipaza acid\u0103 lizozomal\u0103 (LAL) este o enzim\u0103 localizat\u0103 la nivelul lizozomilor, responsabil\u0103 de degradarea esterilor de colesterol \u0219i a trigliceridelor provenite din lipoproteinele internalizate celular.<\/p>\n<p>Deficitul de activitate al acestei enzime determin\u0103 acumularea progresiv\u0103 de lipide \u00een ficat, splin\u0103, vase sanguine \u0219i alte \u021besuturi, conduc\u00e2nd la afectare hepatic\u0103, dislipidemie sever\u0103 \u0219i complica\u021bii cardiovasculare.<\/p>\n<p>Deficitul de lipaz\u0103 acid\u0103 lizozomal\u0103 (LAL-D) include un spectru clinic care variaz\u0103 de la forma infantil\u0103 sever\u0103 (boala Wolman) p\u00e2n\u0103 la forme cu debut tardiv cunoscute anterior sub denumirea de boala de stocare a esterilor de colesterol (CESD \u2013 Cholesteryl Ester Storage Disease).<\/p>\n<p>Analiza enzimatic\u0103 reprezint\u0103 metoda de prim\u0103 linie pentru confirmarea diagnosticului biochimic al bolii \u0219i poate fi completat\u0103 ulterior prin testare genetic\u0103 a genei LIPA.<\/p>\n<h3>Afec\u021biuni sau simptome asociate:<\/h3>\n<ul>\n<li>Deficit de lipaz\u0103 acid\u0103 lizozomal\u0103 (LAL-D);<\/li>\n<li>Boala Wolman;<\/li>\n<li>Boala de stocare a esterilor de colesterol (CESD);<\/li>\n<li>Hepatomegalie \u0219i\/sau splenomegalie;<\/li>\n<li>Cre\u0219terea persistent\u0103 a transaminazelor;<\/li>\n<li>Steatoz\u0103 hepatic\u0103 de cauz\u0103 neexplicat\u0103;<\/li>\n<li>Fibroz\u0103 sau ciroz\u0103 hepatic\u0103;<\/li>\n<li>Dislipidemie sever\u0103 (LDL crescut, HDL sc\u0103zut);<\/li>\n<li>Ateroscleroz\u0103 precoce;<\/li>\n<li>\u00cent\u00e2rziere de cre\u0219tere la copil;<\/li>\n<li>Malabsorb\u021bie \u0219i afectare gastrointestinal\u0103 \u00een formele severe.<\/li>\n<\/ul>\n<h3>Cui se adreseaz\u0103:<\/h3>\n<p>Medicilor geneticieni, gastroenterologilor, hepatologilor, pediatrilor, interni\u0219tilor, speciali\u0219tilor \u00een boli metabolice \u0219i altor medici implica\u021bi \u00een evaluarea pacien\u021bilor cu hepatopatii inexplicabile, dislipidemii severe sau suspiciune de boal\u0103 lizozomal\u0103.<\/p>\n<h3>Metodologie de testare:<\/h3>\n<p>Analiza determin\u0103 activitatea enzimatic\u0103 a lipazei acide lizozomale (LAL) utiliz\u00e2nd metode biochimice validate, efectuate din prob\u0103 de s\u00e2nge uscat pe h\u00e2rtie special\u0103 (Dried Blood Spot \u2013 DBS) sau din alte tipuri de probe biologice acceptate de laborator.<\/p>\n<p>Rezultatul exprim\u0103 nivelul activit\u0103\u021bii enzimatice \u0219i permite identificarea pacien\u021bilor cu deficit par\u021bial sau complet de LAL.<\/p>\n<p>\u00cen cazul unui rezultat sugestiv pentru deficit enzimatic, se recomand\u0103 confirmarea molecular\u0103 prin analiza genei LIPA.<\/p>\n<h3>Beneficii \u0219i importan\u021b\u0103 clinic\u0103:<\/h3>\n<ul>\n<li>Permite diagnosticul precoce al deficitului de lipaz\u0103 acid\u0103 lizozomal\u0103;<\/li>\n<li>Contribuie la diferen\u021bierea fa\u021b\u0103 de alte cauze de steatoz\u0103 hepatic\u0103 \u0219i dislipidemie;<\/li>\n<li>Faciliteaz\u0103 ini\u021bierea precoce a terapiei specifice de substitu\u021bie enzimatic\u0103;<\/li>\n<li>Reduce riscul complica\u021biilor hepatice \u0219i cardiovasculare severe;<\/li>\n<li>Sprijin\u0103 diagnosticul diferen\u021bial al bolilor lizozomale de stocare;<\/li>\n<li>Reprezint\u0103 o investiga\u021bie esen\u021bial\u0103 pentru pacien\u021bii cu afectare hepatic\u0103 inexplicabil\u0103.<\/li>\n<\/ul>\n<h3>Particularit\u0103\u021bi \u0219i limit\u0103ri:<\/h3>\n<ul>\n<li>Testul eviden\u021biaz\u0103 activitatea enzimatic\u0103, dar nu identific\u0103 muta\u021biile genetice responsabile;<\/li>\n<li>Rezultatele aflate \u00een zona limit\u0103 pot necesita investiga\u021bii suplimentare;<\/li>\n<li>Confirmarea diagnosticului necesit\u0103 corelare clinic\u0103 \u0219i genetic\u0103;<\/li>\n<li>Activitatea enzimatic\u0103 poate fi influen\u021bat\u0103 de calitatea probei \u0219i condi\u021biile de transport.<\/li>\n<\/ul>\n<h3>Tip prob\u0103:<\/h3>\n<p>S\u00e2nge periferic (EDTA) \u2013 2 \u00d7 6 ml.<\/p>\n<h3>Recoltare:<\/h3>\n<p>Proba se recolteaz\u0103 \u00een vacutainer cu EDTA.<\/p>\n<h3>Condi\u021bii:<\/h3>\n<p>Transport conform protocolului laboratorului.<\/p>\n<h3>Denumiri alternative:<\/h3>\n<p>Analiza activit\u0103\u021bii lipazei acide lizozomale; Test enzimatic LAL; LAL-D screening; Deficit de lipaz\u0103 acid\u0103 lizozomal\u0103; Test enzimatic pentru boala Wolman; Test CESD.<\/p>\n<h3>Analize asociate recomandate:<\/h3>\n<ul>\n<li>Analiza molecular\u0103 a genei LIPA;<\/li>\n<li>Profil lipidic complet (colesterol total, LDL, HDL, trigliceride);<\/li>\n<li>Transaminaze hepatice (ALT, AST);<\/li>\n<li>Ecografie hepatic\u0103;<\/li>\n<li>Elastografie hepatic\u0103;<\/li>\n<li>Evaluare cardiometabolic\u0103;<\/li>\n<li>Consiliere genetic\u0103 \u00eenainte \u0219i dup\u0103 testare.<\/li>\n<\/ul>\n","protected":false},"excerpt":{"rendered":"<p>Analiz\u0103 enzimatic\u0103 utilizat\u0103 pentru determinarea activit\u0103\u021bii lipazei acide lizozomale (LAL), o enzim\u0103 esen\u021bial\u0103 \u00een metabolismul intracelular al esterilor de colesterol \u0219i trigliceridelor. Testul este utilizat pentru diagnosticul deficitului de lipaz\u0103 acid\u0103 lizozomal\u0103 (LAL-D), o boal\u0103 metabolic\u0103 lizozomal\u0103 rar\u0103 cauzat\u0103 de muta\u021bii ale genei LIPA.<\/p>\n","protected":false},"featured_media":0,"template":"","meta":{"_acf_changed":false,"inline_featured_image":false},"product_brand":[],"product_cat":[1209,3166,2876],"product_tag":[],"class_list":["post-27699","product","type-product","status-publish","product_cat-analize","product_cat-diagnostic-genetic","product_cat-serviciu-laborator","first","instock","sale","virtual","purchasable","product-type-simple"],"acf":[],"aioseo_notices":[],"aioseo_head":"\n\t\t<!-- All in One SEO Pro 5.0.0.1 - aioseo.com -->\n\t<meta name=\"description\" content=\"Analiz\u0103 enzimatic\u0103 utilizat\u0103 pentru determinarea activit\u0103\u021bii lipazei acide lizozomale (LAL), o enzim\u0103 esen\u021bial\u0103 \u00een metabolismul intracelular al esterilor de colesterol \u0219i trigliceridelor. Testul este utilizat pentru diagnosticul deficitului de lipaz\u0103 acid\u0103 lizozomal\u0103 (LAL-D), o boal\u0103 metabolic\u0103 lizozomal\u0103 rar\u0103 cauzat\u0103 de muta\u021bii ale genei LIPA.\" \/>\n\t<meta name=\"robots\" content=\"max-image-preview:large\" \/>\n\t<link rel=\"canonical\" href=\"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/lipa-analiza-enzimatica-lipaza-acida-lizozomala-lal\/\" \/>\n\t<meta name=\"generator\" content=\"All in One SEO Pro (AIOSEO) 5.0.0.1\" \/>\n\t\t<meta property=\"og:locale\" content=\"ro_RO\" \/>\n\t\t<meta property=\"og:site_name\" content=\"Clinica Sante - Laborator de Analize Medicale - Clinica Sante - Laborator de Analize Medicale\" \/>\n\t\t<meta property=\"og:type\" content=\"article\" \/>\n\t\t<meta property=\"og:title\" content=\"LIPA \u2013 Analiza enzimatica lipaza acida lizozomala (LAL) - Clinica Sante - Laborator de Analize Medicale\" \/>\n\t\t<meta property=\"og:description\" content=\"Analiz\u0103 enzimatic\u0103 utilizat\u0103 pentru determinarea activit\u0103\u021bii lipazei acide lizozomale (LAL), o enzim\u0103 esen\u021bial\u0103 \u00een metabolismul intracelular al esterilor de colesterol \u0219i trigliceridelor. Testul este utilizat pentru diagnosticul deficitului de lipaz\u0103 acid\u0103 lizozomal\u0103 (LAL-D), o boal\u0103 metabolic\u0103 lizozomal\u0103 rar\u0103 cauzat\u0103 de muta\u021bii ale genei LIPA.\" \/>\n\t\t<meta property=\"og:url\" content=\"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/lipa-analiza-enzimatica-lipaza-acida-lizozomala-lal\/\" \/>\n\t\t<meta property=\"article:published_time\" content=\"2025-06-24T13:49:45+00:00\" \/>\n\t\t<meta property=\"article:modified_time\" content=\"2026-06-30T14:23:19+00:00\" \/>\n\t\t<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n\t\t<meta name=\"twitter:title\" content=\"LIPA \u2013 Analiza enzimatica lipaza acida lizozomala (LAL) - Clinica Sante - Laborator de Analize Medicale\" \/>\n\t\t<meta name=\"twitter:description\" content=\"Analiz\u0103 enzimatic\u0103 utilizat\u0103 pentru determinarea activit\u0103\u021bii lipazei acide lizozomale (LAL), o enzim\u0103 esen\u021bial\u0103 \u00een metabolismul intracelular al esterilor de colesterol \u0219i trigliceridelor. 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