نتایج جستجو برای: methylmalonic acidemia
تعداد نتایج: 2180 فیلتر نتایج به سال:
Because of this specificity, a proportion of patients who are investigated for vitamin B 12 deficiency will end up being tested for the presence of IFABs, regardless of the diagnostic cascade favored by the investigating physician(s) (1, 2). In referral laboratories, this may lead to substantial test volumes of labor-intensive manual RIAs, with all the associated problems. These range from an i...
BACKGROUND Combined Malonic and Methylmalonic Aciduria (CMAMMA) is a rare recessive inborn error of metabolism characterised by elevations of urine malonic acid (MA) and methylmalonic acid (MMA). Nearly all reported cases are caused by malonyl-CoA decarboxylase (MCD) deficiency. Most patients have metabolic acidosis, developmental delay, seizures and cardiomyopathy. CMAMMA was also described in...
Background and objectiveMethylmalonic acidemia (MMA) propionic (PA) are inborn errors of metabolism. While survival MMA PA patients has improved in recent decades, long-term outcome is still unsatisfactory. A protein restricted diet the mainstay for treatment. Additional amino acid mixtures (AAM) can be prescribed if natural insufficient. It unknown dietary treatment have an impact on outcome.D...
OBJECTIVE To assess the long term outcome of patients with methylmalonic acidaemia in a cross sectional study. PATIENTS All 35 patients with methylmalonic acidaemia seen at Great Ormond Street Hospital for Children in London, UK between 1970 and 1996 were studied. They were divided into cobalamin responsive (n = 6) and non-responsive (n = 29), and early and late onset groups. RESULTS There ...
Patients with methylmalonic aciduria have an excessive intramitochondrial accumulation of acylcoenzyme A compounds that may reduce the availability of free coenzyme A (CoA) for normal metabolic requirements, producing profound metabolic disturbances. Giving carnitine to a patient with methylmalonic aciduria produced an increase in hippurate excretion (an index of intramitochondrial adenosine tr...
Methylmalonic aciduria (MMA) cblB type is caused by mutations in the MMAB gene. This encodes the enzyme ATP:cob(I)alamin adenosyltransferase (ATR), which converts reduced cob(I)alamin to an active adenosylcobalamin cofactor. We recently reported the presence of destabilizing pathogenic mutations that retain some residual ATR activity. The aim of the present study was to seek pharmacological cha...
BACKGROUND Succinate-CoA ligase deficiency is responsible for encephalomyopathy with mitochondrial DNA depletion and mild methylmalonic aciduria. Mutations in SUCLA2, the gene encoding a β subunit of succinate-CoA ligase, have been reported in 17 patients until now. Mutations in SUCLG1, encoding the α subunit of the enzyme, have been described in two pedigrees only. METHODS AND FINDINGS In th...
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