title: Glutaric aciduria type 1 as a cause of dystonic cerebral palsy.
abstract: 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 greater than A; p.R161Q). This case alerts pediatricians to consider GA1 as a differential diagnosis of children presenting with dystonic CP.
authors.affiliation: Department of Pediatrics (39), College of Medicine, King Saud University, Riyadh, Kingdom of Saudi Arabia. E-mail. sararmohamed@hotmail.com.
authors.forename: Sarar
authors.initials: S
authors.lastname: Mohamed
authors.forename: Muddathir H
authors.initials: MH
authors.lastname: Hamad
authors.forename: Hamdy H
authors.initials: HH
authors.lastname: Hassan
authors.forename: Mustafa A
authors.initials: MA
authors.lastname: Salih
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications*; D001928:Brain Diseases, Metabolic / Q000150:complications*; D002547:Cerebral Palsy / Q000209:etiology*; D050770:Glutaryl-CoA Dehydrogenase / Q000172:deficiency*; D006801:Humans; D007223:Infant; D008297:Male
chemical_list: D050770:Glutaryl-CoA Dehydrogenase