{"id":2106,"date":"2024-07-11T14:02:36","date_gmt":"2024-07-11T13:02:36","guid":{"rendered":"https:\/\/boks.be\/the-diagnosis\/"},"modified":"2025-04-15T15:46:43","modified_gmt":"2025-04-15T14:46:43","slug":"the-diagnosis","status":"publish","type":"page","link":"https:\/\/boks.be\/en\/the-diagnosis\/","title":{"rendered":"The diagnosis"},"content":{"rendered":"\t\t
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Metabolic diseases<\/h3>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t
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Basic diagnostics<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t
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Often the symptoms already point in the direction of a certain metabolic disorder. In a lab that specializes in metabolic disorders, blood and urine are examined. The tests that the lab staff perform depend on the symptoms that the doctor describes. It starts with an exploratory examination, also called basic diagnostics. In basic diagnostics, more than 100 metabolites are examined. These are substances that should occur naturally in the blood. In a metabolic disorder, one of these substances is missing or one of these substances accumulates. <\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t

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Enzyme diagnostics<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t
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If the results indicate that a metabolic disorder is very likely, enzyme diagnostics follows. In certain body cells, such as skin cells, it is then measured whether a certain enzyme is working properly or not. <\/p>

Not only urine and blood are used to make a diagnosis. For some conditions it is necessary to examine cerebrospinal fluid (obtained via a spinal tap) or a piece of muscle tissue (muscle biopsy) to make a definitive diagnosis. Sometimes the results of an MRI scan (of the brain) help to make a diagnosis. <\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t

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DNA diagnostics<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t
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The diagnosis will then often be confirmed by DNA testing. This involves investigating which hereditary abnormality the patient has. <\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t

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Newborn screening<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t
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In Belgium, the heel prick has been applied systematically and free of charge to all newborns since 1968. Since the defederalisation of Belgium, the responsibility lies with the regions. In total, twelve diseases are tested for in Flanders. <\/p>

De bloedprik wordt afgenomen tussen 72 (liefst) en 96 uur na de geboorte.<\/p>

Wanneer kinderen met een aangeboren stofwisselingsziekte gevonden worden start men onmiddellijk een behandeling. Zo kan de ontwikkeling van deze kinderen geoptimaliseerd worden en kan men mogelijke handicaps voorkomen of minimaliseren. <\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t

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Prenatale diagnostiek<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t
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Prenataal onderzoek, door een vlokkentest of vruchtwaterpunctie, is meestal alleen mogelijk als de DNA-afwijking bekend is. Dus als er in het gezin al eerder een kind met een stofwisselingsziekte geboren is. Deze koppels hebben 1 kans op 4 dat hun volgende kind dezelfde aandoening zal krijgen. Door een prenatale test kan reeds voor de geboorte bepaald worden of een kind al dan niet lijdt aan een stofwisselingsziekte. Zodoende kan onmiddellijk na de geboorte gestart worden met een adequate behandeling. <\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/section>\n\t\t\t\t<\/div>\n\t\t","protected":false},"excerpt":{"rendered":"

Become a volunteer Fundraising Metabolic diseases Basic diagnostics Often the symptoms already point in the direction of a certain metabolic disorder. In a lab that specializes in metabolic disorders, blood and urine are examined. The tests that the lab staff perform depend on the symptoms that the doctor describes. It starts with an exploratory examination, […]<\/p>\n","protected":false},"author":1,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_acf_changed":false,"footnotes":""},"class_list":["post-2106","page","type-page","status-publish","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/boks.be\/en\/wp-json\/wp\/v2\/pages\/2106","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/boks.be\/en\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/boks.be\/en\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/boks.be\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/boks.be\/en\/wp-json\/wp\/v2\/comments?post=2106"}],"version-history":[{"count":1,"href":"https:\/\/boks.be\/en\/wp-json\/wp\/v2\/pages\/2106\/revisions"}],"predecessor-version":[{"id":2107,"href":"https:\/\/boks.be\/en\/wp-json\/wp\/v2\/pages\/2106\/revisions\/2107"}],"wp:attachment":[{"href":"https:\/\/boks.be\/en\/wp-json\/wp\/v2\/media?parent=2106"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}