Clinical consequences of disorders in the intermediate metabolism of branched chain amino acids (valine, leucine and isoleucine).
Assays of the amino acid levels in 5,888 newborns and 20 subjects ranging in age from 1 to 20 years, suspected of metabolic diseases, revealed a case of "maple syrup urine disease" caused by disorders in the intermediate metabolism of valine, whose serum and urinary concentrations were followed up from the first days of life. This patient also showed frequent episodes of hypoglycemia. An early treatment with polyvitamins, minerals and trace elements for 18 months resulted in the partial reactivation of the deficient enzymatic systems and the return to normal of the serum and urinary valine and glucose values. Administration of the same treatment to patients over one year of age, showing clinical and biochemical data characteristic to the same disease, was much less effective, thus supporting the conclusion that the vitamins and minerals could be useful in the "maple syrup urine disease" only if they were administered immediately after the disease onset. The correlation index between the serum and urinary valine levels before and after therapy was +0.976 and +0.994, respectively.
Mogoş
T
T
N. Paulescu Institute of Diabetes, Nutrition and Metabolic Diseases, Bucharest, Romania.
Cheţa
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CP
Mincu
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IT
D000293:Adolescent; D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors / Q000188:drug therapy / Q000378:metabolism*; D002648:Child; D002675:Child, Preschool; D004338:Drug Combinations; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007532:Isoleucine / Q000032:analysis / Q000378:metabolism*; D007930:Leucine / Q000032:analysis / Q000378:metabolism*; D008375:Maple Syrup Urine Disease / Q000188:drug therapy / Q000378:metabolism; D008903:Minerals / Q000627:therapeutic use; D009930:Organic Chemicals; D014131:Trace Elements / Q000627:therapeutic use; D014633:Valine / Q000032:analysis / Q000378:metabolism*; D014815:Vitamins / Q000627:therapeutic use
D004338:Drug Combinations; D008903:Minerals; D009930:Organic Chemicals; C086404:Supradyn; D014131:Trace Elements; D014815:Vitamins; D007532:Isoleucine; D007930:Leucine; D014633:Valine