Pellagra with colitis due to a defect in tryptophan metabolism
- 80 Downloads
A 9-year-old girl presented with a red scaly rash confined to sun-exposed areas which started at 2 years of age and had the appearance of pellagra. Investigation of urinary tryptophan metabolites following an oral tryptophan load, showed increased excretion of kynurenine and kynurenic acid but reduced excretion of 3-hydroxy-kynurenine, xanthurenic acid and N1-methyl nicotinamide. These results indicated a defect in the hydroxylation of kynurenine, an important reaction in the synthesis of the nicotinamide nucleotide coenzymes, NAD and NADP, from tryptophan. The patient went on to develop severe colitis and psychological changes. All her symptoms responded to treatment with nicotinamide.
Key wordsKynurenine hydroxylase Tryptophan metabolism Nicotinamide deficiency Pellagra Colitis
high performance liquid chromatography
Unable to display preview. Download preview PDF.
- 1.Davidson DF, Williamson J (1988) Improved assay for urinary 5-hydroxyindoleacetic acid by HPLC with electrochemical detection. Clin Chem 34:768–769Google Scholar
- 4.Joseph MH, Lofthouse R (1987) The preservation of whole blood serotonin and its determination using HPLC. In: Bender DA, Joseph MH, Kochen W, Steinhart H (eds) Progress in tryptophan and serotonin research. Walter de Gruyter, Berlin, pp 385–388Google Scholar
- 5.Komrower GM, Westall R (1967) Hydroxykynureninuria. Am J Dis Child 113:73–80Google Scholar
- 7.Levy H (1989) Hartnup disorder. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic basis of inherited disease, 6th edn. McGraw Hill, New York, pp 2512–2527Google Scholar
- 9.Nisimoto Y, Takeuchi F, Shibata Y (1977) Molecular properties ofl-kynurenine-3-hydroxylase from rat liver mitochondria. J Biochem (Tokyo) 81:1413–1425Google Scholar