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Glutaric Aciduria Type 1: A Case Report and Review of Literature

Sidaraddi Sanju1, Milind S Tullu1, Nithya Seshadri1

  • 1Department of Pediatrics, Seth G.S. Medical College and KEM Hospital, Parel, Mumbai, Maharashtra, India.

Journal of Pediatric Intensive Care
|February 15, 2021
PubMed

Insights

Glutaric aciduria type 1 is a rare metabolic disorder. Early diagnosis and treatment with diet modification and supplements like riboflavin and carnitine can halt neurological decline in infants.

Area of Science:

  • Biochemistry
  • Metabolic Disorders
  • Pediatric Neurology

Background:

  • Glutaric aciduria type 1 (GA-1) is an inherited metabolic disorder.
  • It results from deficiency of glutaryl-CoA dehydrogenase, leading to accumulation of toxic metabolites.
  • Early recognition is crucial for preventing severe neurological damage.

Observation:

  • An 8-month-old infant presented with fever, seizures, dystonia, altered consciousness, and regression of motor and mental milestones.
  • Brain MRI showed frontoparietal atrophy, a "bat-wing appearance," and basal ganglia abnormalities.
  • Biochemical analysis revealed low carnitine levels and elevated ketones, glutaric acid, and 3-hydroxyglutaric acid in urine.

Findings:

  • The patient's clinical presentation and biochemical profile were consistent with glutaric aciduria type 1.
  • Metabolic derangements included low total and free carnitine and a low free/acylcarnitine ratio.
  • Elevated urinary levels of 3-hydroxybutyric acid, acetoacetate, glutaric acid, and 3-hydroxyglutaric acid were observed.

Implications:

  • Prompt diagnosis of GA-1 is essential for timely intervention.
  • Dietary management and supplementation with riboflavin and carnitine can effectively arrest neurological deterioration.
  • This case highlights the importance of comprehensive metabolic screening in infants with unexplained neurological symptoms.

Keywords:
L-carnitinedystoniaglutaric aciduria type 1newborn screening

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