Lucey-Driscoll syndrome: Difference between revisions
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'''Lucey-Driscoll syndrome''' is an [[autosomal recessive]] metabolic disorder affecting enzymes involved in [[bilirubin]] metabolism. | '''Lucey-Driscoll syndrome''' is an [[autosomal recessive]] metabolic disorder affecting enzymes involved in [[bilirubin]] metabolism. | ||
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==Genetics== | ==Genetics== | ||
[[Image:autorecessive.svg|thumb| | [[Image:autorecessive.svg|thumb|left|Lucey-Driscoll syndrome has an autosomal recessive pattern of inheritance.]] | ||
A defect in the [[UGT1A1]]-gene, also linked to [[Crigler-Najjar syndrome]] and [[Gilbert's syndrome]], is responsible for the congenital form of Lucey-Driscoll syndrome. | A defect in the [[UGT1A1]]-gene, also linked to [[Crigler-Najjar syndrome]] and [[Gilbert's syndrome]], is responsible for the congenital form of Lucey-Driscoll syndrome. | ||
Revision as of 14:38, 9 January 2009
| Lucey-Driscoll syndrome | |
| ICD-9 | 774.30 |
|---|---|
| OMIM | 237900 |
| DiseasesDB | 32677 |
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Lucey-Driscoll syndrome is an autosomal recessive metabolic disorder affecting enzymes involved in bilirubin metabolism.
It is one of several disorders classified as a transient familial neonatal unconjugated hyperbilirubinemia.
Cause
The common cause is congenital, but it can also be caused by maternal steroids passed on through breast milk to the newborn. It is different from breast milk jaundice (breast-fed infants have higher bilirubin levels than formula-fed ones).
Genetics
A defect in the UGT1A1-gene, also linked to Crigler-Najjar syndrome and Gilbert's syndrome, is responsible for the congenital form of Lucey-Driscoll syndrome.
External links
- Online Mendelian Inheritance in Man (OMIM) 237900 - transient familial neonatal hyperbilirubinemia, breast feeding jaundice included
- Hyperbilirubinemia, Unconjugated at eMedicine
- Template:RareDiseases