نتایج جستجو برای: inborn error of metabolism
تعداد نتایج: 21199544 فیلتر نتایج به سال:
It is probable that many, if not all, of the inherited ('inborn') metabolic disturbances result from a specific enzyme defect, arising from a single abnormal gene. Examples are now known of a number of such inherited defects, some involving amino acids, which result in a block of a metabolic pathway. For example, the normal pathway for the metabolism of phenylalanine and tyrosine is by a series...
INDIAN PEDIATRICS 19 VOLUME 53__JANUARY 15, 2016 he incidence of classical galactosemia in different countries has been reported to vary from 1 in 30,000 to 1 in 75,000 [1]. The exact population incidence in India is not known as mutations and importance of GALT gene analysis in the diagnosis of galactosemia in Indian patients. The same study also revealed that the mutational profile amongst In...
Background: Alkaptonuria (AKU) is a rare hereditary metabolic disorder that occupies a unique position in the history of medical and biochemical genetics because it was the first human metabolic disorder to be interpreted as genetically determined. This condition is characterized by deficiency of HGAO, an enzyme that is mainly found in hepatocytes. The medical interest in alkaptonuria stems fro...
This is the first report of a patient with aminoacylase I deficiency. High amounts of N-acetylated amino acids were detected by gas chromatography-mass spectrometry in the urine, including the derivatives of serine, glutamic acid, alanine, methionine, glycine, and smaller amounts of threonine, leucine, valine, and isoleucine. NMR spectroscopy confirmed these findings and, in addition, showed th...
Pancytopenia in childhood can be caused by a variety of underlying diseases including hematological and non-hematological entities. Phenylketonuria (PKU) is an inborn error of phenylalanine metabolism. No association between PKU and pancytopenia has ever been reported. We report the first case of PKU revealed by a pancytopenia at presentation. The patient was an infant girl born to healthy non-...
In 1927 Archibald Garrod presented the Huxley Lecture at Charing Cross Hospital Out of this lecture emerged the concept of an “inborn error of metabolism” whereby an inherited defect may lead to the accumulation in cells or body fluids of a metabolite which in itself may predispose to disease. The disorders cited as examples were all adult onset disorders. Today there are over 200 known inborn ...
The group of diseases called "inborn errors of metabolism" are usually characterized by an inherited defect of an enzyme catalytic activity leading to a metabolic block with an accumulation of metabolites before and a lack of metabolites behind the block (see Figure 1). The substrate which cannot be properly degraded because of such a block is metabolized on other minor pathways and induces an ...
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