نتایج جستجو برای: 4 hydroxybutyric aciduria
تعداد نتایج: 1305100 فیلتر نتایج به سال:
INTRODUCTION Mitochondrial acetoacetyl-CoA thiolase (3-oxothiolase) deficiency is a rare metabolic disorder involving ketone body metabolism characterized by acute attacks of vomiting, acidosis, ketosis, and lethargy along with some laboratory criteria including excessive excretion of 2-methyl-3-hydroxybutyric acid in urine. CASE PRESENTATION This is a case report of 3-oxothiolase deficiency ...
BACKGROUND Classical organic acidurias including methylmalonic aciduria (MMA), propionic aciduria (PA) and isovaleric aciduria (IVA) are severe inborn errors of the catabolism of branched-chain amino acids and odd-numbered chain fatty acids, presenting with severe complications. METHODS This study investigated the long-term outcome of 80 patients with classical organic aciduria (38 with MMA, ...
Inherited metabolic diseases are a heterogeneous group of diseases caused by a punctual defect in cell metabolism, resulting in the accumulation of toxic intermediate metabolites or in the lack of important biomolecules for adequate cell functioning. D-glyceric aciduria is an inherited disease caused by a deficiency of glycerate 2-kinase activity, whose pathophysiological mechanisms remain unkn...
Introduction Monogenic defects of neurotransmission have become recognized as a cause of early onset, severe, progressive encephalopathies. The diagnosis is mostly based on the quantitative determination of the neurotransmitters or their metabo-lites in cerebrospinal fluid (CSF), i. e., the amino acids glutamate, glycine, and γ-aminobutyric acid (GABA), the acidic metabolites of the biogenic mo...
Genotype and clinical features of Korean patients with methylmalonic aciduria and propionic aciduria
A rapid sensitive spectrophotometric assay for the measurement of methylmalonic and propionic acids in urine is described. The assay is based upon the quantitation of propionic acid using acetyl coenzyme A synthetase isolated from baker's yeast. This enzyme is highly specific for acetate and propionate, and acetate interference is eliminated by conversion to citrate. Methylmalonic acid was assa...
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