MEGDEL syndrome
Engelsk navn: MEGDEL syndrome
Engelske synonym: 3-methylglutaconic aciduria with deafness-encephalopathy-Leigh-like syndrome,3-methylglutaconic aciduria with hearing loss-encephalopathy-Leigh-like syndrome
Definisjon
MEGDEL syndrome is a rare, genetic, neurometabolic disorder characterized by neonatal hypoglycemia, features of sepsis that are not linked to infection, development of feeding problems, failure to thrive, transient liver dysfunction, and truncal hypotonia followed by dystonia and spasticity which results in psychomotor development arrest and/or regression. Progressive sensorineural deafness, intellectual disability and absent speech are also associated. Laboratory tests demonstrate 3-methylglutaconic aciduria and temporary elevated serum lactate and transaminases.
Fra Orphanet
ORPHA: 352328
Klassifiseringsnivå: Disorder
ICD-10: E71.1
