Pediatric Glutaric Aciduria Type 1: 14 Cases, Diagnosis and Management

Area of Science:

• Biochemistry
• Genetics
• Pediatrics

Background:

• Glutaric aciduria type I (GA-I) is an inherited metabolic disorder affecting lysine breakdown, caused by a deficiency in glutaryl-CoA dehydrogenase.
• It typically presents with developmental regression and dystonia after infections.
• This study focuses on 14 South Indian children diagnosed with GA-I.

Purpose of the Study:

• To describe the clinical manifestations, diagnostic process, and management strategies for Glutaric aciduria type I in a South Indian cohort.
• To emphasize the importance of early diagnosis and intervention for improved patient outcomes.

Main Methods:

• Retrospective analysis of clinical data from 14 children diagnosed with Glutaric aciduria type I.
• Review of presenting symptoms, age at onset and diagnosis, family history, neurological findings, and neuroimaging results.

Main Results:

• Males constituted 57.1% of the cohort, with symptom onset around 8.57 months and diagnosis at a mean of 35.21 months.
• Consanguinity was present in 57.1% of families; 71.4% experienced developmental regression post-infection.
• Macrocephaly and characteristic 'bat's wing' appearance on imaging were common, with ~80% exhibiting moderate to severe neurological disability.

Conclusions:

• Glutaric aciduria type I requires prompt identification and intervention to improve prognosis.
• Delayed diagnosis impacts long-term neurological outcomes, underscoring the need for increased awareness and early screening.