Homosistinurie: beskrywing van 'n geval
Homocystinuria is an inborn error in the methionine metabolic pathway. It is due to an absence of the enzyme cystathionine synthesase and is inherited probably as a result of autosomal recessive transmission. It is characterized by a 'Marfan-like' appearance, ectopia lentis, a marked thrombo-embolic tendency and often mental retardation. Large quantities of methionine and homocystine are present in the blood, and homocystine in the urine. Treatment is not yet clear but a low-methionine diet with cystine supplementation started at an early age holds the most promise. A case of homocystinuria, probably the first in the Republic of South Africa, is described.