Normally, magnetic resonance imaging shows the Sylvian fissure to be operculated, but in<unk> -associated encephalopathy, operculation is absent. In many jurisdictions,<unk>  is included in newborn screening panels. Elevated glutarylcarnitine can be detected by mass spectrometry in a dried blood spot collected shortly after birth. After a positive screening result, confirmatory testing is performed. This includes urine organic acid analysis, looking for<unk>  acid and 3-hydroxyglutaric acid. Plasma and urine acylcarnitine analysis can also be informative. Molecular analysis, including gene sequencing and copy number analysis of GCDH, can be performed to confirm the diagnosis. Molecular testing can also provide information for family planning and prenatal testing, if desired.
Glutaric aciduria type 1
Aspartylglucosaminuria
Hawkinsinuria
Alkaptonuria
Homocystinuria
2-Hydroxyglutaric aciduria
Essential fructosuria
Phenylketonuria