[Glutaric aciduria type 1: clinical presentations, diagnostics and treatment.]

Area of Science:

• Neurology
• Metabolic Disorders
• Genetics

Background:

• Glutaric aciduria type I (GA-I) is a rare, inherited neurometabolic disease.
• It typically manifests in the first year of life, causing progressive basal ganglia damage.
• This damage leads to severe extrapyramidal movement disorders.

Purpose of the Study:

• To report the first cases of Glutaric aciduria type I in the Russian population.
• To compare clinical observations with existing literature data.
• To highlight diagnostic and treatment strategies for GA-I.

Main Methods:

• Clinical case observations.
• Urine and blood sample analysis using tandem mass spectrometry and gas chromatography.
• Literature review and data comparison.

Main Results:

• GA-I cases in the Russian population were identified and described.
• The disease often presents after infections with symptoms like seizures, vomiting, and coma.
• Neurological complications include dystonias, dyskinesias, feeding difficulties, speech delay, and developmental delays.

Conclusions:

• Glutaric aciduria type I requires prompt diagnosis through biochemical testing.
• Management involves dietary protein restriction and carnitine supplementation.
• Early intervention is critical to mitigate severe neurological sequelae.