Title:
Acute Flaccid Paralysis in Infancy: A Rare Presentation of Glutaric Aciduria Type I

Authors:
Amal Prazad, Aswathy Mathews, India

Abstract:

Glutaric aciduria type I (GA1) is a rare autosomal recessive disorder caused by deficiency of glutaryl-CoA dehydrogenase, disturbing lysine, hydroxylysine, and tryptophan metabolism [1]. Although typical presentations include dystonia and developmental delay, acute flaccid paralysis (AFP) is a seldom recognized manifestation [2]. We describe a 10-month-old girl, evaluated at Wadia Children's Hospital, Mumbai in June 2023, presenting with AFP and neuroregression post-febrile illness. MRI revealed striatal injury and subdural collections. Diagnosis was confirmed by elevated glutarylcarnitine (C5DC) and pathogenic GCDH mutation. Early lysine-restricted diet and carnitine supplementation stabilized her course. This report emphasizes the need to consider GA1 in AFP, especially with macrocephaly and suggestive neuroimaging, and highlights that prompt management is crucial for improved outcomes [3].

DOI: http://dx.doi.org/10.51505/ijmshr.2025.9410