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