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Propionic acidemia
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop
The advent of programs of expanded newborn screening using tandem mass spectrometry has greatly increased the yield of patients with propionic acids treated presymptomatically. It has seemed likely that mutations that convey an attenuated clinical disease may be uncovered in this way, as has been observed in other disorders, such as medium-chain acyl CoA dehydrogenase deficiency (Chapter 38), and 3-methylcrotonyl CoA carboxylase deficiency (Chapter 5), but the incidence of propionic acidemia in newborn screening does not appear to differ from incidence encountered in patients diagnosed clinically. The diagnostic analyte in dried neonatal blood spots is C3 (propionyl) carnitine. The ratio of C3/C0 is also elevated.
A pilot study on machine learning approach to delineate metabolic signatures in intellectual disability
Published in International Journal of Developmental Disabilities, 2021
Vidya Nikam, Suvidya Ranade, Naushad Shaik Mohammad, Mohan Kulkarni
The analytes were correlated with demographic characters using Kendall–Tau matrix. 3-Hydroxyisovalerylcarnitine (C5OH) is an indicator for diagnoses of 3-methylcrotonyl-CoA carboxylase deficiency reported to be associated with mild developmental delay (Maeda et al.2008). Decreased levels of acylcarnitines were reported to be associated with neurodegenerative disorders with a major impact on the motor function (Saiki et al.2017). Glutamate results from proline catabolism by aldehyde dehydrogenase and via an aminotransferase enzyme helps in the synthesis of alanine. Glutamate is a main excitatory neurotransmitter and abnormal glutamate signaling is thought to contribute to the pathogenesis of a variety of neurodevelopmental disorders (Fedder and Sabo 2015). This could be explained why subjects with elevated proline and alanine would be having an early onset of ID. Elevated levels of C5 acylcarnitine are characteristic of isovaleric acidemia with clinical features suggestive of significant motor delay (Ensenauer et al.2011). Glycine is an inhibitory neurotransmitter of the central nervous system and its upsurge blood levels are delineated to be a cause of glycine encephalopathy with seizures and speech delay as the major clinical manifestations (Hennermann 2006). The study indicates that Kendall–Tau matrix could efficiently correlate analytes and demographic milestones which match with the reported literature.