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NCC Knowledge Nugget Series: Glutaric Acidemia Typ ...
GA1 ACT Sheet
GA1 ACT Sheet
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Pdf Summary
The document is an ACT Sheet focusing on Glutaric Acidemia Type I (GA I) in newborn screening. This rare condition is caused by a deficiency in the glutaryl-CoA dehydrogenase enzyme, leading to elevated toxic metabolites. Immediate actions include informing the family, assessing the newborn's clinical status, consulting with a specialist, and initiating confirmatory testing and management. Diagnostic evaluations involve testing for elevated glutarylcarnitine and genetic testing for confirmation. Treatment includes a low lysine diet, carnitine supplementation, and emergency care during illness to prevent neurologic symptoms. The condition primarily manifests as acute crises triggered by stressors. Untreated cases may lead to neurologic abnormalities. The document also provides additional resources for communicating screening results, emergency protocols, genetic information, and referrals to clinics for further evaluation and testing. The document emphasizes the importance of professional judgment in applying the guidelines to individual patients and considering updated medical information. The resource is supported by the American College of Medical Genetics and Genomics and provides valuable information for clinicians dealing with newborn screening for GA I.
Keywords
Glutaric Acidemia Type I
Newborn Screening
Glutaryl-CoA Dehydrogenase
Toxic Metabolites
Confirmatory Testing
Management
Lysine Diet
Carnitine Supplementation
Neurologic Symptoms
Genetic Testing
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