Ontology highlight
ABSTRACT:
SUBMITTER: Mohamed S
PROVIDER: S-EPMC4673376 | biostudies-literature | 2015 Nov
REPOSITORIES: biostudies-literature
Saudi medical journal 20151101 11
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 glut ...[more]