A rare case of type i glutaric aciduria in an early child

Abstract

Glutaric aciduria type I (deficiency of glutaryl-COA dehydrogenase, glutaric acidemia type I) is a rare autosomal recessive disease caused by mutations in the gene encoding the enzyme glutaryl – COA - dehydrogenase (GCDH). Cerebral organic aciduria, caused by a deficiency of glutaryl-COA - dehydrogenase, is generally considered a neurological disorder.The phenotypic spectrum of untreated GA-1 varies from a more common and pronounced form (a disease with infancy) to a low-symptom and less common form. In people with the same genotype, the clinical manifestations and depth of CNS damage can vary widely depending on the age of manifestation of acute encephalopathic crises. It is assumed that with early detection and treatment of “asymptomatic” newborns (in the context of screening for this disease), most people who would have developed manifestations of GA-1 with childhood or late onset will remain asymptomatic.

Keywords

• newborns
• children
• type i glutaric aciduria
• metabolic crises
• atrophy of the cortex and subcortical nuclei
• dystonic hyperkinesis