A case of alcaptonuria with fatal  cardiovascular disturbance.
A case of alcaptonuria combined with aortic insufficiency was found in a 28-year-old male. The patient was palpitating at admission. The daily excretion of homogentisic acid was 2.0-6.0 g. Electrocardiography indicated atrial fibrillation and left ventricular hypertrophy with a ST-T change and right axis deviation. Cartilage tissues in the knee-joints showed no pigmentation. Vertebral X-ray revealed no calcification. The patient's history disclosed a family intermarriage in his grandparents. The patient's mother noticed the presence of black stains on diapers in his infancy and brown pigmentation on the skin and sclera in childhood. No kin had similar symptoms.
D000328:Adult; D000474:Alkaptonuria / Q000150:complications* / Q000175:diagnosis; D001022:Aortic Valve Insufficiency / Q000150:complications; D001281:Atrial Fibrillation / Q000150:complications; D006331:Heart Diseases / Q000150:complications*; D006801:Humans; D008297:Male; D013997:Time Factors