NCC Knowledge Nugget Series: Glutaric Acidemia Type 2 ACT Sheet-Glua Type 2 ACT Sheet

Glua Type 2 ACT Sheet

Pdf Summary

The provided document is an ACT (Action) Sheet by the American College of Medical Genetics and Genomics, updated in September 2022. It is an educational resource for medical geneticists and clinicians, designed to assist in delivering quality medical services, particularly concerning newborn screening for elevated C4 and C5 acylcarnitines, indicative of Glutaric Acidemia II (GA-II) or Multiple Acyl-CoA Dehydrogenase Deficiency (MADD).<br /><br />GA-II is a metabolic disorder affecting fatty acid oxidation and energy production, especially during fasting or increased energy demands. The condition can present wide clinical variability, with symptoms such as muscle weakness, exercise intolerance, lethargy, poor feeding, and facial dysmorphisms, alongside biochemical markers like metabolic acidosis and hypoketotic hypoglycemia. Immediate actions for clinicians include informing the family of the screening results, assessing the newborn's clinical status, consulting a pediatric metabolic specialist, initiating confirmatory testing, and starting management protocols as recommended by the specialist.<br /><br />Diagnostic evaluations should include plasma acylcarnitines (elevated C4, C5, and C8), urine organic acids, and molecular genetic testing to confirm and differentiate diagnoses between GA-II, Riboflavin Metabolism Disorders (RMD), and ethylmalonic encephalopathy (EE).<br /><br />Clinically, GA-II can range from severe infantile forms to milder adult manifestations. Treatment involves avoiding fasting and supplementing with riboflavin, L-carnitine, and coenzyme Q10. EE presents early with developmental delays, diarrhea, and petechiae, while RMDs share similarities with GA-II but may also lead to conditions like Riboflavin Transporter Deficiency (RTD) characterized by progressive neuropathy.<br /><br />In addition, resources such as guides on communicating newborn screening results, specific condition information via GARD, Gene Reviews, and Medline Plus are provided. Referral information for genetic clinics and genetic testing registries is also included to aid clinicians in further actions and consultations.

Keywords

Glutaric Acidemia II

Multiple Acyl-CoA Dehydrogenase Deficiency

newborn screening

elevated acylcarnitines

metabolic disorder

fatty acid oxidation

Riboflavin Metabolism Disorders

pediatric metabolic specialist

confirmatory testing

treatment protocols