Simplified Approach to Glutaric Acidurias: A Mini-Review

Abstract

Inherited metabolic diseases (IMDs), comprise a large class of genetic diseases affecting the metabolism. Expanded newborn screening from dried dried blood spot (DBS) samples for inborn errors of metabolism has increased the detection of metabolic disorders in asymptomatic newborns and reduced the morbidity and mortality by early interventions. Organic acidurias (OADs) arise from the defects in the intermediary metabolic pathways of carbohydrate, amino acid and fatty acid oxidation, leading to the accumulation of organic acids in tissues and their subsequent excretion in urine. Glutaric acidurias are a group of OADs which have three major types with different genetic mutations affecting different metabolic enzymes. In this mini-review we will compare three types of GA and their genotypes, symptoms, diagnosis, and treatments will be discussed briefly.