Glutaric aciduria type 1 as a cause of dystonic cerebral palsy

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 in...

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Bibliographic Details
Published in:Saudi medical journal 2015-11, Vol.36 (11), p.1354-1357
Main Authors: Mohamed, Sarar, Hamad, Muddathir H, Hassan, Hamdy H, Salih, Mustafa A
Format: Article
Language:English
Subjects:
Amino Acid Metabolism, Inborn Errors - complications
Amino acids
Brain Diseases, Metabolic - complications
Case Report
Cerebral palsy
Cerebral Palsy - etiology
Enzymes
Gastroenteritis
Genetic aspects
Glutaryl-CoA Dehydrogenase - deficiency
Humans
Infant
Male
Physiological aspects
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Summary: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.
ISSN:0379-5284
1658-3175
DOI:10.15537/smj.2015.11.12132