Utility of specific amino acid ratios in screening for pyruvate dehydrogenase complex deficiencies and other mitochondrial disorders associated with congenital lactic acidosis and newborn screening prospects

Utility of specific amino acid ratios in screening for pyruvate dehydrogenase complex deficiencies and other mitochondrial disorders associated with congenital lactic acidosis and newborn screening prospects

Abstract Pyruvate dehydrogenase complex deficiencies (PDCDs) and other mitochondrial disorders (MtDs) can (a) result in congenital lactic acidosis with elevations of blood alanine (Ala) and proline (Pro), (b) lead to decreased ATP production, and (c) result in high morbidity and mortality. With ~140...

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Bibliographic Details
Main Authors: Jirair K. Bedoyan, Rosemary Hage, Ha Kyung Shin, Sharon Linard, Edwin Ferren, Nicole Ducich, Kirkland Wilson, April Lehman, Lori‐Anne Schillaci, Kandamurugu Manickam, Mari Mori, Dennis Bartholomew, Suzanne DeBrosse, Bruce Cohen, Sumit Parikh, Douglas Kerr
Format: Article
Language:English
Published: Wiley 2020-11-01
Series:JIMD Reports
Subjects:
alanine
ketogenic amino acids
ketogenic diet
lactic acidosis
mitochondrial disorder
newborn screening
Online Access:https://doi.org/10.1002/jmd2.12153

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