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Der HMG-CoA-Lyase-Mangel ist eine sehr sel … Der HMG-CoA-Lyase-Mangel ist eine sehr seltene angeborene, autosomal rezessiv vererbte Stoffwechselstörung des Leucin-Stoffwechsels mit verminderter Aktivität der Hydroxymethylglutaryl-CoA-Lyase und wird zu den klassischen Organoazidopathien gezählt. Synonyme sind: 3-Hydroxy-3-Methylglutaryl-CoA-Lyase-Mangel; 3HMG; Hydroxymethylglutarazidurie; englisch 3-hydroxy-3-methylglutaryl-CoA lyase deficiency Die Erstbeschreibung stammt aus dem Jahre 1976 durch Kym F. Faull und Mitarbeiter.e 1976 durch Kym F. Faull und Mitarbeiter.
, 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency is an uncommon inherited disorder in which the body cannot properly process the amino acid leucine. Additionally, the disorder prevents the body from making ketones, which are used for energy during fasting.
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| rdfs:comment |
3-Hydroxy-3-methylglutaryl-CoA lyase deficiency is an uncommon inherited disorder in which the body cannot properly process the amino acid leucine. Additionally, the disorder prevents the body from making ketones, which are used for energy during fasting.
, Der HMG-CoA-Lyase-Mangel ist eine sehr sel … Der HMG-CoA-Lyase-Mangel ist eine sehr seltene angeborene, autosomal rezessiv vererbte Stoffwechselstörung des Leucin-Stoffwechsels mit verminderter Aktivität der Hydroxymethylglutaryl-CoA-Lyase und wird zu den klassischen Organoazidopathien gezählt. Synonyme sind: 3-Hydroxy-3-Methylglutaryl-CoA-Lyase-Mangel; 3HMG; Hydroxymethylglutarazidurie; englisch 3-hydroxy-3-methylglutaryl-CoA lyase deficiency Die Erstbeschreibung stammt aus dem Jahre 1976 durch Kym F. Faull und Mitarbeiter.e 1976 durch Kym F. Faull und Mitarbeiter.
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3-Hydroxy-3-methylglutaryl-CoA lyase deficiency
, HMG-CoA-Lyase-Mangel
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