Blue Diaper Syndrome
Blue Diaper Syndrome Causes
The cause of blue diaper syndrome is not really known. It is thought to be caused by a defect in tryptophan absorption. This happens when bacterial degradation of the tryptophan in the intestine occurs, leading to excessive production of indole then to indicanuria. Once the baby's urine is expelled, it turns a light blue which causes a peculiar bluish discoloration of the baby's diaper. Recent research indicates that some mutations found in the LAT2 and TAT1 genes may be involved in bringing about this syndrome. Other mutations may be caused by base substitutions or by transcription factors that may not be able to start the transcription process. This, in turn, leads to no translation taking place and the enzyme may not be made. The enzyme is a crucial factor as it is needed for absorption. An inherited form of disease called familial hypercalcemia may cause the urine to turn blue due to the high amount of calcium the body produces. It has also been suggested that the bluish urine is caused by the blue-green discoloration of the infant's stool, likely to be brought about by a pigment produced by the bacteria Pseudomonas aeruginosa.
Blue Diaper Syndrome Definition
Blue diaper syndrome, also known as Drummond's Syndrome or Tryptophan Malabsorption, is a rare, autosomal recessive metabolic disorder characterized in infants by bluish urine-stained diapers. It is a defect in the body's tryptophan absorption in which the urine contains abnormal indoles, giving it a blue color. It is inherited as an autosomal or most certainly recessive trait but could also be linked to the X-chromosome.
Blue Diaper Syndrome Effects
Blue diaper syndrome is an inborn error of amino acid metabolism. There is malabsorption of the tryptophan and phenylalanine amino acids. Because of this abnormal transport of the amino acid tryptophan across the small intestinal lining, bacteria act on urine precursors to produce a compound that turns a light blue upon oxidation. The syndrome is not harmful to newborns but it can be disturbing. The deficiency of the PAH enzyme leads to the collection of phenylalanine which is very harmful to a newborn baby because it can cause mental retardation.
Blue Diaper Syndrome Symptoms and Signs
Symptoms typically include digestive disturbances, fever and problems with vision. Some children with this condition may also develop kidney disease. Blue diaper syndrome is characterized by bluish urine-stained diapers found on affected infants. Hypercalcemia and nephrocalcinosis are also associated with this syndrome, which is a defect in the intestinal transport of tryptophan.