Description

Glycine encephalopathy may encompass a spectrum of genetic mutations. One atypical variant results in late-onset manifestations precipitated by a febrile illness. Diagnosis in this group can be challenging if glycine encephalopathy is not considered.


Manifestations associated with a febrile illness may involve:

(1) intermittent chorea/choreoathetosis

(2) delirium

(3) vertical gaze palsy

(4) lethargy

 

Between infections they may manifest:

(1) mild decline in intelligence quotient (IQ > 60)

(2) attention deficit and hyperactivity disorder (ADHD)

 

Testing during an episode may detect abnormalities:

(1) elevated glycine in the CSF or brain

(2) abnormal enzyme activity

(3) gene mutation


To read more or access our algorithms and calculators, please log in or register.