Open AccessGlutaric Aciduria Type 1: A Case Report and Review of Literature
Author(s) -
Sidaraddi Sanju,
Milind S. Tullu,
Nithya Seshadri,
Mukesh Agrawal
Publication year - 2020
Publication title -
journal of pediatric intensive care
Language(s) - English
Resource type - Journals
eISSN - 2146-4618
pISSN - 2146-4626
DOI - 10.1055/s-0040-1709704
Subject(s) - carnitine , glutaric acid , medicine , magnetic resonance imaging , pediatrics , acetylcarnitine , endocrinology , gastroenterology , biochemistry , radiology , chemistry
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.