RT Journal Article
SR Electronic
T1 Glutaric aciduria type 1 as a cause of dystonic cerebral palsy
JF Saudi Medical Journal
JO Saudi Med J
FD Prince Sultan Military Medical City
SP 1354
OP 1357
DO 10.15537/smj.2015.11.12132
VO 36
IS 11
A1 Sarar Mohamed
A1 Muddathir H. Hamad
A1 Hamdy H. Hassan
A1 Mustafa A. Salih
YR 2015
UL http://smj.org.sa/content/36/11/1354.abstract
AB Glutaric aciduria type 1 (GA1) is an inherited inborn error of metabolism caused by a deficiency of the enzyme glutaryl Co-A dehydrogenase (GCDH). Here, we report a 14-month-old Saudi boy with GA1 who presented with severe dystonia and was mis-diagnosed as cerebral palsy (CP). He presented to our institute with encephalopathy following an episode of gastroenteritis. His physical examination showed dystonia and spastic quadriplegia. His investigations revealed elevated both urinary 3-hydroxy glutaric acid, and serum glutarylcarnitine. The DNA analysis confirmed homozygosity for a mutation in the GCDH-coding gene (c.482G>A;p.R161Q). This case alerts pediatricians to consider GA1 as a differential diagnosis of children presenting with dystonic CP.