منابع مشابه
Evidence for McKusick’s hypothesis of deficient collagen in patients with homocystinuria
Osteoporosis occurs commonly in homocystinuria. The underlying pathobiochemical mechanism remains unclear: disturbed cross-lin king of collagen has been suggested but this hypothesis has not been fully tested, nor have studies on collagen synthesis been performed. We therefore used recently available noninvasive tests for collagen synthesis and cross-linking to examine 10 patients with homocys...
متن کاملDystonia in homocystinuria.
Three patients with homocystinuria due to cystathionine beta-synthase deficiency who developed progressive generalised dystonia are described. Although cerebrovascular thrombosis is usually thought to be responsible for neurological dysfunction in homocystinuric patients, neuropathological studies in one case and clinical and radiological evidence in the other two suggested that dystonia was no...
متن کاملPathological 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 med...
متن کاملHomocystinuria in Adult Siblings
Homocystinuria, an inborn error of amino acid metabolism, is a rare disorder. Here, we are reporting homocystinuria in two adult siblings. The elder brother had seizures, mental retardation, marfanoid habitus and osteoporosis with multiple pathological fractures of the bones and he was operated for a dislocated lens; the younger sister had mental retardation, osteoporosis and untreated dislocat...
متن کاملLens fringe in homocystinuria.
The lens from a patient with homocystinuria was examined by scanning and transmission electron microscopy. A fringe of zonular remnants was found attached to the anterior lens capsule, and was observed to be composed of masses of short filaments in disarray, together with occasional bundles of normal-appearing zonular filaments. Although a pericapsular membrane (zonular lamella) was not observe...
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ژورنال
عنوان ژورنال: Journal of Clinical Investigation
سال: 1973
ISSN: 0021-9738
DOI: 10.1172/jci107449