Diagnose of Homocistinuria and Deficiency of Adenilosuccinato Liasa Through Technical Chemical, Biochemical and Molecular.
Among the innate errors of the metabolism (EIM) that are biochemical defects of genetic origin is: the homocistinuria and the deficiency of adenilosuccinato liasa (EC 4.3.2.2) (ADSL), the first one is frequently taken place by deficiency of the cistationina ß sintasa (EC 4.2.1.22) (CßS) enzyme that intervenes in the catabolismo of the amino acid essential metionina, the second are a defect in the metabolism of the purinas. The clinical manifestations of these deficiencies are: for the CßS they commit systems of the organism like the ocular, skeletal, vascular muscle and central nervous system; in the case of ADSL, mental retard is presented, convulse, autistic features, involuntary movements, spasm and cerebral hipoplasia. In this work the sequence is written used in the diagnosis of the homocistinuria and of the ADSL, starting from the use of chemical, biochemical and molecular methods.
They were studied patient with suspicion clinic of being affected by a EIM; the chemical tests were used as the nitroprusiato of sodium and of silver; separation of amino acids in plasm and he/she urinates for biochemical fine, technical layer cromatografía to quantify the enzyme CßS and technical molecular to identify the mutation that produces the homocistinuria. In the case of the ADSL the diagnosis was carried out by means of Bratton Marshall test with which the presence of metabolitos of the purinas is identified; then for cromatografía of high resolution (HPLC) to separate, to identify and to quantify succinilpurinas. For the case of the homocistinuria the results of nitroprusiato of sodium and of silver they were positive, the enzymatic quantification showed deficiency of C?S and you ended up identifying the presence of a mutation. In the case of the deficiency of ADSL Bratton Marshall test was positive and they quantified it of metabolitos of the purinas it was increased.
