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Blue diaper syndrome

Disease definition

Blue Diaper syndrome is a hereditary metabolic disorder characterised by hypercalcaemia with nephrocalcinosis and indicanuria.

ORPHA:94086

Classification level: Disorder
  • Synonym(s):
    • Drummond syndrome
    • Familial hypercalcemia-nephrocalcinosis-indicanuria syndrome
  • Prevalence: Unknown
  • Inheritance: -
  • Age of onset: -
  • ICD-10: E70.8
  • ICD-11: 5C60.Y
  • OMIM: 211000
  • UMLS: C0268478
  • MeSH: C536239
  • GARD: 5939
  • MedDRA: -

Summary

Epidemiology

The prevalence is unknown.

Clinical description

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.

Etiology

The defect in tryptophan absorption may be associated with mutations in the LAT2 and TAT1 genes, encoding two amino acid transporters.

Genetic counseling

Transmission may be autosomal recessive or X-linked.

- Last update: September 2007

  A summary on this disease is available in Deutsch (2007) Español (2007) Français (2007) Italiano (2007) Nederlands (2007)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.