PATHOLOGICAL FINDINGS IN HOMOCYSTINURIA.
Pathological findings are described in four cases of a new aminoaciduria in which homocystine is excreted in the urine. All the patients were mentally retarded children. Three of them presented diagnostic features of Marfan's syndrome. Necropsy on one case and biopsy findings in the others are described. Fatty change occurs in the liver. The most striking lesions are vascular. Metachromatic medial degeneration of the aorta and of the elastic arteries in the necropsied case are considered in relation to Marfan's syndrome. Other changes, particularly thrombosis which is prevalent in homocystinuria, suggest the possibility of a platelet defect. The findings are discussed in respect of an upset in the metabolism of sulphur-containing amino-acids and with particular reference to Marfan's syndrome.
D000293:Adolescent; D000592:Amino Acid Metabolism, Inborn Errors; D000596:Amino Acids; D054119:Arachnodactyly; D002648:Child; D003553:Cystine; D005234:Fatty Liver; D006712:Homocystinuria; D006801:Humans; D008607:Intellectual Disability; D020766:Intracranial Embolism; D002542:Intracranial Embolism and Thrombosis; D007668:Kidney; D008382:Marfan Syndrome; D010336:Pathology; D000608:Renal Aminoacidurias; D013927:Thrombosis; D014652:Vascular Diseases
D000596:Amino Acids; D003553:Cystine
ADOLESCENCE; AMINO ACID METABOLISM, INBORN ERRORS; AMINOACIDURIA, RENAL; ARACHNODACTYLY; CEREBRAL EMBOLISM AND THROMBOSIS; CHILD; CYSTINE; FATTY LIVER; MENTAL RETARDATION; PATHOLOGY; THROMBOSIS; VASCULAR DISEASES