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Aminoacidopathies are rare inherited disorder of amino acid metabolism. Abnormalities exist in either the activity of a specific enzyme in the metabolic pathway or in the membrane transport system of amino acids. Brain damages can be avoided if the diseases is detected at birth and the infant is maintained on a diet containing very low levels of serum phenylalanine.
Aminoacidopathies are rare inherited disorder of amino acid metabolism. Abnormalities exist in either the activity of a specific enzyme in the metabolic pathway or in the membrane transport system of amino acids. Brain damages can be avoided if the diseases is detected at birth and the infant is maintained on a diet containing very low levels of serum phenylalanine.
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Aminoacidopathies are rare inherited disorder of amino acid metabolism. Abnormalities exist in either the activity of a specific enzyme in the metabolic pathway or in the membrane transport system of amino acids. Brain damages can be avoided if the diseases is detected at birth and the infant is maintained on a diet containing very low levels of serum phenylalanine.
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Attribution Non-Commercial (BY-NC)
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Téléchargez comme PPT, PDF, TXT ou lisez en ligne sur Scribd
one amino group and one carboxyl group. There are 20 different amino acids that are used as building block of protein as different R chains. Inherited abnormalities in amino acid metabolism result in a variety of conditions most of which are associated with mental retardation. Aminoacidopathies are rare inherited disorder of amino acid metabolism. The abnormalities exist in either the activity of a specific enzyme in the metabolic pathway or in the membrane transport system of amino acids. More than 100 diseases have been identified that result from inborn errors of amino acids matabolism. Blood samples for amino acids analysis should be drawn after at least 6-8 hours fast to avoid the effect of absorbed amino acids originating from dietary protein. The sample is collected in heparin, and the plasma is promptly removed from the cells, taking care not to aspirate the layer of platelets and leukocytes. Deproteinization should be carried out within 30 minutes of samples collection. Thin Layer Chromatography (TLC) with two dimension is used as preliminary screening. Two kind of solvent i.e. Butanol-acetic acid-water and ethanol- ammonia-water. The chromatogram is visualized by staining with ninhydrin which gives blue colour. The other choice is to use HPLC reversed phased system PKU is inherited disease occurs in approximately 1 in 10000 birth. Although there are several variant of this disease, the biochemical defect in the classic form of PKU is an almost total absence of activity of the enzyme Phenylalanine hydroxylase which catalyzes the conversion of Phenylalanine to tyrosine. Phenylalanine accumulates and is metabolized by an alternate degradative pathway become phenylpyruvic acid and metabolites. In infant and children with this inherited defect, retarded mental development occurs as a result of the toxic effects on the brain of phenylpyruvic acid phenylpyruvate and metabolites. Brain damages can be avoided if the diseases is detected at birth and the infant is maintained on a diet containing very low levels of phenyilalanine. The normal limits of serum phenylalanine is 1,2mg/dL-3,4mg/dL (70 μmol/L-200 μmol/L) The procedure is based on the fluorescence of a complex formed of phenylalanine-ninhydrin- copper in the presence of a dipeptide). The test required pretreatment of the filter paper specimen with trichloroecetic acid (TCA). The extract is then reacted in a micro titer plate with a mixture of ninhydrin, succinate and leucynalanine in the presence copper tartrate. The fluorescence of the complex is measured using excitation or emission wavelength of 360 nm and 530 nm. The HPLC methods to analyze phenylalanine in the serum can also be used The function protein in the body : Tissue nutrition Maintenance of water distribution between cells and tissues, intestitial compartment and the vascular system of the body Participation as buffers to maintain pH Transportation of metabolic substances Part of defense system/antibodies Hormones and receptors Connective tissue structure Biocatalyst/ enzyme Participation in the hemostatis and coagulation of blood Low level of total protein may be due to excessive loss, decreased synthesis or accelerated catabolism called by Hypoproteinemia. Plasma protein can be lost by excretion in the urine in renal disease, inflammation of the digestive system, loss of blood in open wounds, internal bleeding or extensive burn. Another case of Hypoproteinemia caused by malnutrition or intestinal malabsorbtion. Elevated levels of total protein may be associated with dehydration or excessive production called by Hyperproteinemia. It is not common disease. When excess of water is lost from the vascular system, protein remain within blood vessels. Dehydration result from a variety condition including vomiting, diarrhea, excessive sweating, diabetic acidosis, and hypoaldosteronism. Anaysis of total protein Kjeldahl : Digestion of protein and mesure the nitrogen content Refractometry : Measurement of refractive index due to solutes in serum Biuret : Formation of violet colored chelate betwaae Cu ion and peptide bond in alkaline medium.Used as routine method Dye binding: Protein binds to dye and cause a spectral shift in the absorbance maximum of the dye. Bromfenol blue, Ponceau S, amino black have been used to stain protein after electrophoresis. Serum protein also have been estimated by UV Spec. Salt precipitation : globulin are precipitation in high salt concentration, albumin in supernatant is quantitated by biuret reaction Dye Binding : Use dye binding such as metil orange, HABA (2,4, hydroxyazobenzene-benzoic acid), BCG (Bromcresol green), BCP (Bromcresol purple) Electrophoresis and stained by dye.
Globulin can be calculated by subtracting albumin
from total protein Enzymes are specific biologic proteins that catalyze biochemical reactions without altering the equilibrium point of reaction or being consumed or undergoing changes in composition. Enzyme found in all body tissue including serum Many enzymes are clinically important. Quantitating serum levels of certain enzymes or isoenzymes can assist in the diagnosis and prognosis of hepatic disorder, skeletal muscle disorder, bone disorder, cardiac disorder, malignancy or acute pancreatitis. Measurement of enzymes activity is prefer than the concentration. A given method might photometrically measure an increase in product of concentration, decrease in substrate concentration or decrease in coenzyme conc. Acid phosphatase : prostatic carcinoma Alanine aminotransferase : hepatic disorder Alkaline phosphatase : hepatic disorder and bone disorder Amylase : acute pancreatitis Aspartate aminotransferase : Myocardial infarction, hepatic disorder, skeletal muscle disorder Creatine kinase : Myocardial infarction, skeletal muscle disorder GGT : hepatic disorder G-6 PD) : drug induced hemolytic anemia