Homocystinuria is an autosomal recessively transmitted with a frequency of 1/100000-200000, multisystemic metabolic disease.It occurs in deficiency of enzymes involving in methionine metabolism, enzyme deficiencies result in rise of serum methionine and homocysteine levels.Clinical presentation vary depending on the serum methionine and homocysteine levels.
Here we discuss 19* years-old teenager presented to the emergency department with crushing chest pain with blood pressure 160/80mmhg.He was tall with long extremities has mental retardation and marfanoid appearance.The patient was already diagnosed as a homocystinuria 8 years ago.In electrocardiogram (ECG) there was ST segment elevation in aVR derivation, ST segment depression in all other derivations.Transthoracic echocardiography(TTE) reveals global hypokinesia.Coronary angiography(CAG) was performed because of thrombotic predisposing factors and ECG change.Merely plaques were detected ın CAG.The patient was discharged on his 7th day with antiplatelet and antiagregant therapy.
