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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.

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A Workshop took place during the 17th Symposium of the SSIEM held at Leeds in 1979 to consider the clinical and biochemical characteristics and the possible therapeutic regimes in non-ketotic hyperglycinaemia (NKH). Papers were presented on the basic biochemistry of glycine metabolism and the defect present in NKH, the clinical presentation and modes of therapy, the value of LEG as an aid to diagnosis, the transport of glycine in fibroblasts, the age-dependent toxicity of glycine, and the valine toxicity of glycine in NKH. Those present who had patients with NKH filled in a questionnaire relating to the natural history of the disorder and the result of therapeutic trials. The data on 70 patients are presented here; a list of those who contributed will be found at the foot of the page*.