Cor Vasa 2003, 44(9):459-462

Homocystinuria detected in the ICU in a patient with Q-wave myocardial infarction using selective screening for homocysteine

Josef Hyánek1,*, Jana Matoušková2, Petr Kmoníček2, Viktor Kožich3, Jiří Zeman4, Miroslav Orendáč3, Miroslav Janošík3, Hedvika Pejznochová1, Ladislava Dubská1, Věra Martiníková1, Tereza Paterová4
1 Oddělení klinické biochemie, Metabolická ambulance
2 Koronární jednotka kardiologického oddělení, Nemocnice Na Homolce
3 Ústav dědičných metabolických poruch
4 Klinika dětí a dorostu, Všeobecná fakultní nemocnice a 1. lékařská fakulta Univerzity Karlovy, Praha, Česká republika

The authors describe a typical case of homocystinuria-inherited metabolic disorder manifesting itself in a 40-year-old patient suffering from typical Q-wave myocardial infarction when undergoing selective screening for homocystein on an ICU. After successful percutaneous transluminal coronary angioplasty (PTCA), enzymatic investigation of low cystathionine-beta-synthase activity in fibroblasts demonstrated conventional homocystinuria. Total cholesterol and other lipid parameters were within the normal range.

Keywords: Homocystinuria; Q-wave myocardial infarction; Hyperhomocysteinemia; Selective screening

Published: September 1, 2003  Show citation

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Hyánek J, Matoušková J, Kmoníček P, Kožich V, Zeman J, Orendáč M, et al.. Homocystinuria detected in the ICU in a patient with Q-wave myocardial infarction using selective screening for homocysteine. Cor Vasa. 2003;44(9):459-462.
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