Homocystinuria

Homocystinuria and Marfan’s Syndrome

Dystonia 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...

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 med...

Homocystinuria 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...

Dietary treatment of homocystinuria.

Homocystinuria was described in 1962 by Field, Carson, Cusworth, Dent, and Neil and later in the same year by Gerritsen, Vaughn, and Waisman. A further case was reported by Komrower and Wilson (1963); in this case and the ones described by Field et al., the patients presented a characteristic picture of congenital bilateral dislocation of the eye lens, iridodenesis, genu valgum, pes planum, and...