Literature DB >> 2094674

The diagnosis and management of MSUD in Saudi Arabia by using two different methods.

S B Subramanyam1, S M Qadri, M B Dhalla, P T Ozand.   

Abstract

Plasma amino acid concentrations were measured in Maple Syrup Urine Disease (MSUD) infants using reversed phase high performance liquid chromatography (HPLC). The technique involved an automated data acquisition system and phenylisothiocyanate (PITC) pre-column derivatization. During a period of three years more than 14 cases of MSUD have been confirmed in our hospital suggesting an alarmingly high rate of incidence of this disease in the Kingdom as compared to the West. We present here a simple and reliable method of quantitating the branched chain and other amino acid concentrations in plasma samples of children with metabolic disorders. In addition, we also present a fluorimetric COBAS based enzymatic method for the rapid semiquantitative measurement of branched chain amino acids for a disease in which a prompt initial diagnosis is essential.

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Year:  1990        PMID： 2094674     DOI： 10.1007/bf02728722

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN： 0019-5456            Impact factor:   1.967


  9 in total

1.  ION EXCHANGE CHROMATOGRAPHY OF THE FREE AMINO ACIDS IN THE PLASMA OF THE NEWBORN INFANT.

Authors:  J C DICKINSON; H ROSENBLUM; P B HAMILTON
Journal:  Pediatrics       Date:  1965-07       Impact factor: 7.124

2.  A new syndrome: progressive familial infantile cerebral dysfunction associated with an unusual urinary substance.

Authors:  J H MENKES; P L HURST; J M CRAIG
Journal:  Pediatrics       Date:  1954-11       Impact factor: 7.124

3.  A new variant of maple syrup urine disease (branched chain ketoaciduria). Clinical and biochemical evaluation.

Authors:  J D Schulman; T J Lustberg; J L Kennedy; M Museles; J E Seegmiller
Journal:  Am J Med       Date:  1970-07       Impact factor: 4.965

4.  Growth velocity and plasma amino acids in the newborn.

Authors:  P H Scott; H M Berger; B A Wharton
Journal:  Pediatr Res       Date:  1985-05       Impact factor: 3.756

5.  Prospective study of maple-syrup-urine disease for the first four days of life.

Authors:  A M DiGeorge; I Rezvani; L R Garibaldi; M Schwartz
Journal:  N Engl J Med       Date:  1982-12-09       Impact factor: 91.245

6.  A simple enzymatic fluorimetric method for the determination of branched-chain L-amino acids in microlitre volumes of plasma.

Authors:  M Gleeson; R J Maughan
Journal:  Clin Chim Acta       Date:  1987-07-15       Impact factor: 3.786

7.  Maple syrup urine disease: branched-chain amino acid concentrations and metabolism in cultured human lymphoblasts.

Authors:  S D Skaper; D P Molden; J E Seegmiller
Journal:  Biochem Genet       Date:  1976-08       Impact factor: 1.890

8.  The relationship between the branched chain amino acids and their alpha-ketoacids in maple syrup urine disease.

Authors:  S E Snyderman; F Goldstein; C Sansaricq; P M Norton
Journal:  Pediatr Res       Date:  1984-09       Impact factor: 3.756

9.  Aminoacidopathies: a review of 3 years experience of investigations in a Kuwait hospital.

Authors:  G C Yadav; P C Reavey
Journal:  J Inherit Metab Dis       Date:  1988       Impact factor: 4.982
  9 in total
  2 in total

1.  Saudi aminoacidemias: a six-year study.

Authors:  S B Subramanyam
Journal:  Indian J Pediatr       Date:  1996 Sep-Oct       Impact factor: 1.967

2.  Recall rate and positive predictive value of MSUD screening is not influenced by hydroxyproline.

Authors:  Ralph Fingerhut
Journal:  Eur J Pediatr       Date:  2008-08-06       Impact factor: 3.183
  2 in total

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