Rett syndrome

Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting the central nervous system.

Hyperammonemia

An increased concentration of ammonia in the blood.


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PMID (PMCID)
3709567
 FEMALE Child
Rett syndrome revisited: a patient with biotin dependency.
Bachmann C, Schaub J, Colombo JP, Burri BJ, Sweetman L, Wolf B.
Eur J Pediatr. 1986;144(6):563-6.
A patient with Rett syndrome (cerebral atrophy associated with hyperammonemia) was studied.