Blue diaper syndrome is a recessive metabolic disorder that has not yet been determined to be X-linked or autosomal. This syndrome is caused by a mutation in the large neutral amino acids transporter small subunit 1 protein, which allows tryptophan, among other amino acids, to be reabsorbed in the kidneys. The excess tryptophan found in the intestine is digested by bacteria which excrete indole, which can undergo oxidation to produce indigo blue. This is seen in the diapers of infants affected by blue diaper syndrome, due to the increased levels of indole in their urine or feces. Other symptoms can include bacterial infections, damage to various parts of the eye, hypercalcemia, and impaired kidney function due to this. Treatment can include a calcium restricted diet in order to prevent hypercalcemia, and a tryptophan restricted diet to prevent all systems. If bacterial infections are common, antibiotics may be prescribed.
References
Blue Diaper Syndrome References
DRUMMOND KN, MICHAEL AF, ULSTROM RA, GOOD RA: THE BLUE DIAPER SYNDROME: FAMILIAL HYPERCALCEMIA WITH NEPHROCALCINOSIS AND INDICANURIA; A NEW FAMILIAL DISEASE, WITH DEFINITION OF THE METABOLIC ABNORMALITY. Am J Med. 1964 Dec;37:928-48.
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