Blue diaper syndrome
Medical condition / From Wikipedia, the free encyclopedia
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Blue diaper syndrome is a rare, autosomal recessive or X linked recessive metabolic disorder characterized in infants by bluish urine-stained diapers. It is also known as Drummond's syndrome, and hypercalcemia.[1][2]
Blue diaper syndrome | |
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Other names | Other Names: Hypercalcemia, familial, with nephrocalcinosis and indicanuria |
Blue diaper syndrome has an autosomal recessive pattern of inheritance. | |
Medication | none |
This article may require cleanup to meet Wikipedia's quality standards. The specific problem is: "It appears from a cursory read of the literature that the disease is too rare to determine whether it is autosomal recessive or X linked. However, this article confusingly lists this as both autosomal recessive and X-linked." (September 2021) |
It is caused by a defect in tryptophan absorption. Bacterial degradation of unabsorbed 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 (indoluria). Symptoms typically include digestive disturbances, fever and visual problems. Some may also develop disease due to the incomplete breakdown of tryptophan.[3]
It was characterized in 1964, and inherited in an autosomal recessive pattern although X-linked recessive inheritance has not been completely ruled out since reported patients have been male.[4]
Since this syndrome is X linked, the chance for a child to receive normal genes from both parents and be genetically normal for that particular trait is 25%. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms.[5] Carrier females usually do not display symptoms of the disorder because it is usually the X chromosome with the abnormal gene that is “turned off”.[3] Parents can undergo genetic testing to see if their child will get this syndrome, but most do not find out until they see the symptoms mentioned below.[5]