Blue diaper syndrome is thought to be inherited as an autosomal recessive disease.
Blue diaper syndrome is a rare, autosomal recessive metabolic disorder characterized in infants by bluish urine-stained diapers.Blue diaper syndrome is an inborn error of amino acid metabolism. The amino acid tryptophan is malabsorped in the intestinal lining of newborn infants. The syndrome is known to be an autosomal recessive trait. It is believed that a mutation in the tryptophan transport protein causes a baby's diaper to turn blue once the urine touches the diaper. This was caused by the bacteria that acted on urine precursor's to produce a compound that turned indigo blue upon contact with air.
The cause of the mutation in blue diaper is hypothesis. It is caused by a blemish in tryptophan absorption. Bacterial degradation of the tryptophan in the intestine leads to excessive indole production and thus to indicanuria which, on oxidation to indigo blue, causes a peculiar bluish discoloration of the diaper. Mutations in the LAT2 and TAT1 genes might be involved in causing this syndrome. Other mutations may be caused by base substitutions or by transcription factors that may not start the transcription process and in turn no translation takes place.
Symptoms typically involve digestive disturbances, fever, irritability and visual difficulties. Some children with blue diaper syndrome may also develop kidney disease. Infants with this disorder may have bluish urine-stained diapers. Blue diaper syndrome is inherited as an autosomal or X-linked recessive trait. The syndrome is not harmful to newborns but can be disturbing. The classic PKU is caused by a deficiency of the hepatic enzyme hydroxylase (PAH) and is a typical example of the inborn errors . The deficiency of the PAH enzyme leads to the accumulation of phenylalanine which is very dangerous to a newborn baby.
