Figure 2
(A and B) MRI brain coronal T1 and axial T2-weighted images showing widening of sylvian fissures and open opercula
Source publication
Glutaric aciduria type 1 is an autosomal recessive disorder caused by mutations in GCDH gene on chromosome 19 leading to the deficiency of glutaryl-CoA dehydrogenase which causes an abnormal metabolism of lysine, hydroxylysine and tryptophan with resultant accumulation of glutaric acid and 3-hydroxy glutaric acid. Usual presentations include macroc...
Similar publications
Glutaric aciduria type 1 (GA1) is a rare neurometabolic disorder that can lead to encephalopathic crises and severe dystonic movement disorders. Adherence to strict dietary restriction, in particular a diet low in lysine, carnitine supplementation and emergency treatment in pre‐symptomatic patients diagnosed by high‐risk screen (HRS) or newborn scr...
Citations
In 2016, a task force by the International Parkinson and Movement Disorder Society reported recommendations for the nomenclature of genetic movement disorders. Among the genetic diseases listed, glutaric aciduria type 1 (OMIM#231670) was characterized as complex dystonia (predominant dystonia in a complex phenotypic presentation). The new designation/abbreviation for this genetic disease was DYT/CHOR-GCDH. In addition, the task force provided clinical clues to this disorder. For example, dystonia and chorea usually occur after acute metabolic crises, while Parkinsonism presents later in the disease course.
