Zusammenfassung:
Die 3-Hydroxy-3-methylglutarylacidurie ist eine seltene angeborene Stoffwechselerkrankung, die durch eine starke Verminderung der Enzymaktivität der intramitochondrialen 3-Hydroxy-3-methylglutaryl-Coenzym A Lyase verursacht wird. Wir beschreiben ein türkisches Schwesternpaar mit dieser Erkrankung. Bei der älteren Schwester führten klinische Symptome wie Lethargie und Krampfanfälle bei metabolischer Azidose mit Hypoglykämie und Hyperammonämie zum Verdacht auf eine angeborene Stoffwechselkrankheit, die dann durch die gaschromatographisch-massenspektrometrische Untersuchung der organischen Säuren als solche identifiziert werden konnte. Bei der jüngeren Schwester konnte die Diagnose bereits pränatal gesichert werden. Die Befunde unserer Patientinnen werden im Hinblick auf klinische Symptome, Differenzialdiagnose und therapeutische Möglichkeiten mit Angaben aus der Literatur verglichen.
Abkürzungen:
HMG-CoA: 3-Hydroxy-3-methylglutaryl-Coenzym A; HMG-CoA Lyase: 3-Hydroxy-3-methylglutaryl-Coenzym A Lyase, HMGA: 3-Hydroxy-3-methylglutarsäure
3-Hydroxy-3-methylglutaric aciduria is a rare inborn error of metabolism, caused by reduced enzyme activity of the intramitochondrial 3-hydroxy-3-methylglutaryl-CoA lyase. We describe two turkish sisters with this disease. In the older sister clinical symptoms with lethargy, convulsions, metabolic acidosis, hypoglycemia and hyperammonemia lead to the diagnosis. The younger sister was diagnosed prenatally. The clinical course of our patients is compared with those reported in the literature with respect to clinical symptoms, differential diagnosis and therapeutic regimens.
Schlüsselwörter:
Fettsäureoxidation - HMG-CoA Lyase Mangel - hypoketotische Hypoglykämie - Hyperammonämie
Key words:
Fatty acid oxidation - HMG-CoA lyase deficiency - hypoketotic hypoglycemia - hyperammonemia
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1 gewidmet Herrn Professor Dr. L. Diekmann zum 65. Geburtstag
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