Blue diaper syndrome

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The blue diaper syndrome (Engl. Blue diaper syndrome ), also known as Tryptophan malabsorption syndrome called, is a very rare congenital metabolic disease , it in a malabsorption of the amino acid tryptophan is coming.

The result is decreased tryptophan levels in the blood. Unabsorbed tryptophan is broken down by bacteria to indole in the digestive tract and metabolized to indican in the liver . This is excreted through the kidneys and can stain babies' diapers blue, as the indican turns indigo blue on contact with the air . At the same time there are growth disorders , recurrent fever attacks , hypercalcaemia and hyperphosphaturia . The inheritance of the disease is still unclear. Discusses an autosomal - recessive and X-linked -rezessiver inheritance. The exact molecular biological causes of the disease are also still unknown. Mutations in the L-type amino acid transporter 2 ( SLC7A8 , LAT2) on chromosome 14 gene locus q11.2 or the T-type amino acid transporter 1 ( SLC16A10 , TAT1) on chromosome 6 gene locus q21-q22 are possible.

However, symptoms of blue diaper syndrome also arise with acquired tryptophan malabsorption.

A blue coloration of the urine can also be found after the absorption of dyes ( e.g. patent blue V ), in urinary tract infections caused by Pseudomonas aeruginosa with the formation of pyocyanin and in purple urine bag syndrome (PUBS).

literature

  • CR Scriver : Abnormalities of tryptophan metabolism in a patient with malabsorption syndrome. In: J Lab Clin Med 58, 1961, pp. 908-919. PMID 13910066
  • WN Arnold: King George III's urine and indigo blue. In: The Lancet 347, 1996, pp. 1811-1813. PMID 8667928
  • KN Drummond et al: The blue diaper syndrome: Familial hypercalcemia with nephrocalcinosis and indicanuria; A new familial disease, with definition of the metabolic abnormality. In: Am J Med 37, 1964, p. 928. PMID 14246093
  • SA Libit et al: Fecal Pseudomonas aeruginosa as a cause of the blue diaper syndrome. In: J Pediat 81, 1972, pp. 546-547. PMID 4626127

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