J Pediatr Intensive Care 2021; 10(01): 065-070
DOI: 10.1055/s-0040-1709704
Case Report

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

1   Department of Pediatrics, Seth G.S. Medical College and KEM Hospital, Parel, Mumbai, Maharashtra, India
,
1   Department of Pediatrics, Seth G.S. Medical College and KEM Hospital, Parel, Mumbai, Maharashtra, India
,
Nithya Seshadri
1   Department of Pediatrics, Seth G.S. Medical College and KEM Hospital, Parel, Mumbai, Maharashtra, India
,
Mukesh Agrawal
1   Department of Pediatrics, Seth G.S. Medical College and KEM Hospital, Parel, Mumbai, Maharashtra, India
› Author Affiliations
Funding None.

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.

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.




Publication History

Received: 15 February 2020

Accepted: 12 March 2020

Article published online:
17 April 2020

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