Abstract Background Methylmalonic acidemia with homocystinuria is caused by a rare inborn error of vitamin B12 (cobalamin) metabolism. There are four complementation classes cobalamin defects cblC, cblD, cblF, and cblJ that responsible for combined methylmalonic homocystinuria. Case presentation We report case Pakistani family composed six children diagnosed (MMA + HCU). Mutation analysis sibli...

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 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...

cytes as a readily available source of this enzyme, its activity has been compared in 48 control subjects, seven homozygotes affected with homocystinuria, and 17 obligate heterozygotes. PHA-induced enzyme levels were highest in controls (mean ±SEM, 666.9±170.2 pmol cystathionine formed/mg protein per 4 h), intermediate in heterozygotes (114.4±27.3), and absent to severely deficient in homozygot...

Introduction Homocystinuria due to homozygous cystathionine tl-synthase deficiency is an inborn error of metabolism characterized by a high incidence of thrombosis and premature atherosclerosis. We evaluated TXA2 biosynthesis in vivo and several in vitro tests of platelet function in 11 homocystinuric patients and 12 healthy controls. In vitro, patients' platelet aggregation was within control ...