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

Abstract

An 8-month-old male infant patient was referred to our institution (from elsewhere) with a history of fever, convulsions, dystonic posturing, altered sensorium, and loss of motor and mental milestones since past 1 month. Upon admission to our institution, a neuroimaging (magnetic resonance imaging of the brain) revealed frontoparietal atrophy, “bat-wing appearance,” and basal ganglia changes. Carnitine and acylcarnitine profile revealed low total carnitine, very low free carnitine, and low free/acylcarnitine ratio, with normal levels of plasma amino acids. Urine gas chromatography mass spectrometry showed an elevated level of ketones (3-hydroxybutyric acid and acetoacetate) and glutaric acid with the presence of 3-hydroxyglutaric acid, suggestive of glutaric aciduria type 1. Diet modification and pharmacotherapy with riboflavin and carnitine arrested the neurological deterioration in the patient.

Keywords

glutaric aciduria type 1 - dystonia - L-carnitine - newborn screening

Authors' Contributions

S.S. and M.S.T. were involved in conceptualizing the manuscript, conducting literature search, and drafting the manuscript. S.S. and M.S.T. are both designated as the first authors of this manuscript. Patient data were collected by S.S. and N.S.; M.A. helped in conducting literature search and revised the manuscript for scientific content. All the authors were involved in clinical management of the patient. M.S.T. will act as the guarantor for the manuscript.

Publikationsverlauf

Eingereicht: 15. Februar 2020

Angenommen: 12. März 2020

Artikel online veröffentlicht:
17. April 2020

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