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Date: 19-11-2021
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Date: 31-12-2021
935
Date: 10-9-2021
1208
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Amino acid Metabolism Disorders
These single gene disorders, a subset of the inborn errors of metabolism, are caused by mutations that generally result in abnormal proteins, most often enzymes. The inherited defects may be expressed as a total loss of enzyme activity or, more frequently, as a partial deficiency in catalytic activity. Without treatment, the amino acid disorders almost invariably result in intellectual disability or other developmental abnormalities as a consequence of harmful accumulation of metabolites. Although >50 of these disorders have been described, many are rare, occurring in <1 per 250,000 in most populations (Fig.1). Collectively, however, they constitute a very significant portion of pediatric genetic diseases (Fig. 2).
Figure 1: Incidence of inherited diseases of amino acid metabolism. [Note: Cystinuria is the most common inborn error of amino acid transport.]
Figure 2 :Summary of the metabolism of amino acids in humans. Genetically determined enzyme deficiencies are summarized in white boxes. Nitrogencontaining compounds derived from amino acids are shown in small, yellow boxes. Classification of amino acids is color coded: Red = glucogenic; brown = glucogenic and ketogenic; green = ketogenic. Compounds in BLUE ALL CAPS are the seven metabolites to which all amino acid metabolism converges. CoA = coenzyme A; NAD(H) = nicotinamide adenine dinucleotide.
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في اليوم العالمي للصحة النفسية.. نصائح لتحسين مزاجك اليومي
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آلاف الأشخاص يحاولون الهروب من فلوريدا بسبب إعصار ميلتون
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لليوم الثاني.. العتبة العباسية تواصل إقامة مجلسها العزائي بذكرى شهادة السيدة فاطمة الزهراء (عليها السلام)
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