Der OTC-Mangel ist eine x-chromosomal rezessive metabolische Erkrankung, die durch erhöhte Ammoniak-Spiegel im Blut gekennzeichnet ist. Die Erkrankung kann durch eine proteinarme Diät und Arginin-Substitution behandelt werden.
OTC-Mangel ist die häufigste Erkrankung des Harnstoffzyklus. Die Prävalenz beträgt 1/40.000.[Error: Macro 'ref' doesn't exist]
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OMIM.ORG article Omim 311250 |
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Orphanet article Orphanet ID 664 |
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Wikipedia Artikel Wikipedia DE (Harnstoffzyklusdefekt) |