PT  - JOURNAL ARTICLE
AU  - Mohamed, Sarar
AU  - Hamad, Muddathir H.
AU  - Hassan, Hamdy H.
AU  - Salih, Mustafa A.
TI  - Glutaric aciduria type 1 as a cause of dystonic cerebral palsy
AID  - 10.15537/smj.2015.11.12132
DP  - 2015 Nov 01
TA  - Saudi Medical Journal
PG  - 1354--1357
VI  - 36
IP  - 11
4099  - http://smj.org.sa/content/36/11/1354.short
4100  - http://smj.org.sa/content/36/11/1354.full
SO  - Saudi Med J2015 Nov 01; 36
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.