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Glutaric aciduria type 1 as a cause of dystonic cerebral palsy

Sarar Mohamed1, Muddathir H Hamad, Hamdy H Hassan

  • 1Department of Pediatrics (39), College of Medicine, King Saud University, Riyadh, Kingdom of Saudi Arabia. E-mail. sararmohamed@hotmail.com.

Saudi Medical Journal
|November 24, 2015
PubMed

Insights

Glutaric aciduria type 1 (GA1), a metabolic disorder, can mimic cerebral palsy (CP). Early diagnosis of GA1 is crucial for affected children, preventing severe neurological damage.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Glutaric aciduria type 1 (GA1) is an inherited metabolic disorder.
  • It results from a deficiency in the glutaryl-CoA dehydrogenase (GCDH) enzyme.
  • GA1 can present with neurological symptoms that may be misdiagnosed.

Purpose of the Study:

  • To report a case of GA1 misdiagnosed as cerebral palsy (CP).
  • To highlight the importance of considering GA1 in the differential diagnosis of dystonic presentations in children.

Main Methods:

  • Case report of a 14-month-old Saudi boy.
  • Clinical presentation: encephalopathy, dystonia, spastic quadriplegia.
  • Biochemical tests: elevated urinary 3-hydroxy glutaric acid and serum glutarylcarnitine.
  • Genetic analysis: confirmed homozygosity for a GCDH gene mutation (c.482G>A; p.R161Q).

Main Results:

  • The patient presented with severe dystonia and was initially diagnosed with cerebral palsy (CP).
  • Biochemical and genetic analyses confirmed the diagnosis of GA1.
  • The specific GCDH mutation identified was c.482G>A (p.R161Q).

Conclusions:

  • GA1 should be considered in the differential diagnosis of children presenting with dystonic cerebral palsy (CP).
  • Timely diagnosis and management of GA1 are essential to prevent severe neurological sequelae.

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