Search results for "Homocystinuria"

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ABNORMALLY HIGH THROMBOXANE BIOSYNTHESIS IN HOMOZYGOUS HOMOCYSTINURIA. EVIDENCE FOR PLATELET INVOLVEMENT AND PROBUCOL-SENSITIVE MECHANISM.

1993

Homocystinuria due to homozygous cystathionine beta-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 values as were TXB2 formation, fibrinogen binding, and ATP secretion in response to thrombin. In contrast, the urinary excretion of 11-dehydro-TXB2, a major enzymatic derivative of TXA2, was > 2 SD of controls in all patients (1,724 +/- 828 pg/mg creatinine, mean +/- SD, in patients vs. 345 +/- 136 in controls, …

AdultBlood PlateletsMalemedicine.medical_specialtyAdolescentPlatelet AggregationThromboxaneProbucolHomocystinuriaInternal medicinemedicineHumansPlateletPlatelet activationChildBlood CoagulationbiologyAspirinChemistryFibrinolysisHomozygoteFibrinogen bindingThromboxanesGeneral Medicinemedicine.diseaseCystathionine beta synthaseEndocrinologyProbucolbiology.proteinlipids (amino acids peptides and proteins)FemaleHomocystinuriaCyclooxygenasemedicine.drugcirculatory and respiratory physiologyResearch Article
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Investigation on a MMACHC mutant from cblC disease: The c.394C>T variant

2022

The cblC disease is an inborn disorder of the vitamin B12 (cobalamin, Cbl) metabolism characterized by methylmalonic aciduria and homocystinuria. The clinical consequences of this disease are devastating and, even when early treated with current therapies, the affected children manifest symptoms involving vision, growth, and learning. The illness is caused by mutations in the gene codifying for MMACHC, a 282aa protein that transports and transforms the different Cbl forms. Here we present data on the structural properties of the truncated protein p.R132X resulting from the c.394C > T mutation that, along with c.271dupA and c.331C > T, is among the most common mutations in cblC. Althou…

Vitamin B12 (cobalamin)Structure-function relationshipBiophysicsBiochemistryAnalytical ChemistryVitamin B 12MutationMMACHC proteinHumansMethylmalonic aciduria and homocystinuria cblC typeHomocystinuriaCarrier ProteinsChildOxidoreductasesAmino Acid Metabolism Inborn ErrorsMolecular BiologyBiochimica et Biophysica Acta (BBA) - Proteins and Proteomics
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