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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.

SUBMITTER: Mohamed S

PROVIDER: S-EPMC4673376 | biostudies-literature | 2015 Nov

REPOSITORIES: biostudies-literature

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Glutaric aciduria type 1 as a cause of dystonic cerebral palsy.

Mohamed Sarar S Hamad Muddathir H MH Hassan Hamdy H HH Salih Mustafa A MA

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]

PMID: 26593172

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Feasibility of Whole Body Vibration Therapy in Individuals with Dystonic or Spastic Dystonic Cerebral Palsy: A Pilot Study.

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