A clinicobiochemical study of tryptophan and other plasma and urinary amino acids in the family with Hartnup disease.

  title={A clinicobiochemical study of tryptophan and other plasma and urinary amino acids in the family with Hartnup disease.},
  author={D D Milovanovi{\'c}},
  journal={Advances in experimental medicine and biology},
  • D. Milovanović
  • Published 2003
  • Medicine, Biology
  • Advances in experimental medicine and biology
Two cases of Hartnup disease were diagnosed in a five member family. A changeable polymorph and severe clinical features of a 16 year old girl was described. Total plasma amino acids value was significantly decreased in the girl compared to the sum of plasma amino acids value in the brother, mother, father and to the summed maximal values of normal range. Intermediate aminoaciduria was also found with atypical amino acids pattern. Total plasma amino acids concentration was significantly reduced… Expand


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The Hartnup mutation affects an amino acid transport system of intestine and kidney used by a large group of neutral charge alpha-amino acids (six essential and several nonessential) and the associated plasma amino acid value (measured genotype) is polygenic. Expand
Serum tryptophan to large neutral amino acid ratio and urinary tryptophan in three patients with phenylketonuria in a family. A clinical and biochemical study.
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Studies of intestinal transport defect in Hartnup disease.
The defect in neutral amino acid transport seen in the intestine in Hartnup disease is demonstrable in vitro and further studies are required to correlate transport in vitro, with absorption in vivo and with the aminoaciduria. Expand
Clinical and Biochemical Observations in Two Cases of Hartnup Disease
The evidence accumulated to date suggests that the primary abnormality in Hartnup disease is a defective transport of tryptophan, and probably other neutral amino acids, in the small intestine and renal tubules. Expand
Amino acids of plasma and urine in diseases of muscle.
Concentrations of 33 amino acids were determined in plasma and urine by column chromatography in 20 boys with Duchenne dystrophy and 20 controls and no abnormality was found in 18 patients with myotonic, limb-girdle, or facioscapulohumeral dy Strophy. Expand
Tryptophan and its metabolites in a family with Hartnup disease.
The investigation of L-tryptophan (TRY), kynurenine (KYN), xanthurenic acid (XA), 5-hydroxyindoleacetic acid (5-HIAA) and indoxyl sulfate (IS) in plasma and urine of a four member family, with one symptomatic and one asymptomatic patient with Hartnup disease, prior to and after a TRY load. Expand
A study of plasma free amino acid levels. II. Normal values for children and adults.
Men have higher levels than women for all the amino acids except glycine, serine, and threonine, but there are highly significant differences between the values for men and women for most of the amino acid levels. Expand
Linkage of type II and type III cystinuria to 19q13.1: codominant inheritance of two cystinuric alleles at 19q13.1 produces an extreme stone-forming phenotype.
A kindred of 39 persons in two families of cystinurics, Types II and III, that support linkage to 19q13.1 and confirms the linkage of Type III Cystinuria at 19q 13.1. Expand
Disorders of intestinal transport of amino acids.
Renal amino acidurias are a group of disorders in which the capacity of the renal tubules to reabsorb amino acids is reduced [low threshold], and must be differentiated from two groups of Disorders in which known extrarenal enzyme defects produce amino Acidurias but in which there are no transport abnormalities. Expand
Disorders of Amino-Acid Transport*
  • M. Milne
  • Medicine
  • British medical journal
  • 1964
Historically, glucose was the substance in which transport mechanisms were first studied in detail because of the use of phlorhizin as a physiological too, and its action in-causing glycosuria was recognized by von Mering (1888). Expand