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

ACS AIP APA ASA Harvard Chicago Chicago Notes IEEE ISO690 MLA NLM Turabian Vancouver
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.
Download citation