نتایج جستجو برای: organic acidemia
تعداد نتایج: 203483 فیلتر نتایج به سال:
methylmalonic acidemia (mma) is usually caused by a deficiency of the enzyme methylmalonyl-coa mutase (mcm), a defect in the transport or synthesis of its cofactor, adenosyl-cobalamin (cbla, cblb, cblc, cblf, cbld, and cblx), or deficiency of the enzyme methylmalonyl-coa epimerase. a comprehensive diagnostic approach involves investigations of metabolites with tandem mass spectrometry, organic ...
In order to examine correlations which might be useful in ascertaining or confirming the diagnosis of mitochondrial disease, a retrospective analysis of urine organic acids was performed. Among 3646 analyses from randomly selected samples referred to our laboratory, there were 258 specimens from 67 patients with various known disorders of mitochondrial oxidative function, most of whom were know...
BACKGROUND Propionic acidemia is an inherited disorder caused by deficiency of propionyl-CoA carboxylase. Although it is one of the most frequent organic acidurias, information on the outcome of affected individuals is still limited. STUDY DESIGN/METHODS Clinical and outcome data of 55 patients with propionic acidemia from 16 European metabolic centers were evaluated retrospectively. 35 patie...
background: urinary organic acids are water-soluble intermediates and end products of the metabolism of amino acids, carbohydrates, lipids, and a number of other metabolic processes. in the hereditary diseases known as organic acidurias, an enzyme or co-factor defect in a metabolic pathway leads to the accumulation and increased excretion of one or more of these acidic metabolites. gas chromato...
Propionic acidemia or aciduria is an intoxication-type disorder of organic metabolism. Patients deteriorate in times of increased metabolic demand and subsequent catabolism. Metabolic decompensation can manifest with lethargy, vomiting, coma and death if not appropriately treated. On January 28-30, 2011 in Washington, D.C., Children's National Medical Center hosted a group of clinicians, scient...
This is the first reported case of a patient with both non-ketotic hyperglycinemia and propionic acidemia. At 2 years of age, the patient was diagnosed with non-ketotic hyperglycinemia by elevated glycine levels and mutations in the GLDC gene (paternal allele: c.1576_1577insC delT and c.1580delGinsCAA; p.S527Tfs*13, and maternal allele: c.1819G>A; p.G607S). At 8 years of age after having been p...
Dear Editor, Methylmalonic acidemia, one of the organic acidemias, is associated with a variety of clinical presentations ranging from very sick newborn infants to asymptomatic adults, regardless of the nature of the enzymatic defect or the biochemical abnormalities. A 6-year-old boy with a past history of methylmalonic acidemia presented to the emergency room with a one-week history of inflamm...
Most organic acidemias become clinically apparent during neonatal period or early infancy. Infants typically have severe metabolic acidosis with increased anion gap, ketosis and hyperammonemia. Extremely high ammonia levels exceeding 1000 μmol/L is a discriminative feature for urea cycle defect while levels exceeding 200-300 μmol/L are rarely encountered in other reasons of hyperammonemia. Leth...
Relationship Between Mode of Delivery and Umbilical Cord Acidemia in Neonates Born at Ayatollah Kashani Hospital, (Kerman) F. Aminzadeh MD Received: 19/07/06 Sent for Revision: 06/11/06 Received Revised Manuscript: 15/11/06 Accepted: 20/12/06 Background and objective: The pH of umbilical cord blood is a useful parameter for health status assessment of neonates. They may be premanentl...
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