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methylmalonzuur acidurie
methylmalonic acidemia
Last Update: 2014-12-09
Usage Frequency: 30
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bloed methylmalonzuur verhoogd
blood methylmalonic acid increased
Last Update: 2014-12-09
Usage Frequency: 1
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als de omzetting van propionyl-coa in succinyl-coa in de mitochondriën stagneert door b12 tekort, dan geeft dat een toename van methylmalonzuur mma in het bloed.
when the conversion of propionyl-coa to succinyl-coa in the mitochondria fails due to vitamin b12 deficiency, then elevated blood levels of methylmalonic acid mma occur.
Last Update: 2016-03-03
Usage Frequency: 1
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carbaglu is tevens bij 57 patiënten (van wie ongeveer tweederde pasgeboren babies waren) met isovaleriaanzuur acidemie, methylmalonzuur acidemie of propionzuur acidemie die behandeld werden met carbaglu tijdens acute aanvallen van hyperammoniëmie.
carbaglu has also been studied in 57 patients (about two-thirds were newborn babies) with isovaleric acidaemia, methylmalonic acidaemia or propionic acidaemia who were treated with carbaglu during hyperammonaemia crises.
Last Update: 2017-04-26
Usage Frequency: 1
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indien dit enzym niet aanwezig is, kan ammoniak in het bloed niet worden afgebroken, wat de concentratie ervan doet stijgen. sommige organische acidemieën (isovaleriaanzuur acidemie, methylmalonzuur acidemie en propionzuur acidemie) waar patiënten een tekort hebben aan bepaalde enzymen die betrokken zijn bij de eiwitstofwisseling.
if the enzyme is not present, ammonia cannot be broken down and it builds up in the blood; some organic acidaemias (isovaleric acidaemia, methylmalonic acidaemia and propionic acidaemia) where patients lack certain enzymes involved in protein metabolism.
Last Update: 2017-04-26
Usage Frequency: 1
Quality: