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Blue diaper syndrome

Orpha number ORPHA94086
Synonym(s) Drummond syndrome
Familial hypercalcemia - nephrocalcinosis - indicanuria
Prevalence Unknown
Inheritance -
Age of onset -
ICD-10
  • E72.0
OMIM
UMLS
  • C0268478
MeSH
  • C536239
MedDRA -
SNOMED CT
  • 59531002

Summary

Blue Diaper syndrome is a hereditary metabolic disorder characterised by hypercalcaemia with nephrocalcinosis and indicanuria. The prevalence is unknown. Affected infants present with digestive problems, fever and periodic irritability. Visual disturbances have also been reported. The disease is associated with a defect in intestinal tryptophan absorption that leads to a bluish discoloration of the urine when it comes into contact with the air. Transmission may be autosomal recessive or X-linked. The defect in tryptophan absorption may be associated with mutations in the LAT2 and TAT1 genes, encoding two amino acid transporters.


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