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-Reference-Cited by-同舟云学术

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

Published:2020-08-16 Issue:1 Volume:56 Page:70-81
ISSN:2192-8312
Container-title:JIMD Reports
language:en
Short-container-title:JIMD Reports

Author:

Bedoyan Jirair K.¹²³⁴^ORCID,Hage Rosemary⁵,Shin Ha Kyung⁶,Linard Sharon⁵,Ferren Edwin²³,Ducich Nicole⁶,Wilson Kirkland⁶,Lehman April⁷,Schillaci Lori‐Anne¹²³,Manickam Kandamurugu⁷,Mori Mari⁷,Bartholomew Dennis⁷,DeBrosse Suzanne¹²³,Cohen Bruce⁸⁹,Parikh Sumit¹⁰,Kerr Douglas²⁴

Affiliation:

1. Departments of Genetics and Genome Sciences Case Western Reserve University (CWRU) Cleveland Ohio USA

2. Pediatrics CWRU Cleveland Ohio USA

3. Center for Human Genetics University Hospitals Cleveland Medical Center (UHCMC) Cleveland Ohio USA

4. Center for Inherited Disorders of Energy Metabolism (CIDEM) UHCMC Cleveland Ohio USA

5. Newborn Screening and Radiation Chemistry Ohio Department of Health Laboratory Columbus Ohio USA

6. School of Medicine CWRU Cleveland Ohio USA

7. Nationwide Children's Hospital (NCH) and The Ohio State University College of Medicine Section of Genetic and Genomic Medicine Columbus Ohio USA

8. Department of Pediatrics Akron Children's Hospital (ACH) Rebecca D. Considine Research Institute Akron Ohio USA

9. Northeast Ohio Medical University Rootstown Ohio USA

10. The Cleveland Clinic Foundation (CCF), Neurosciences Institute Cleveland Ohio USA

Funder

National Institutes of Health

Publisher

Wiley

Subject

Biochemistry, Genetics and Molecular Biology (miscellaneous),Endocrinology, Diabetes and Metabolism,Internal Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12153

Reference41 articles.

1. Enzymatic testing sensitivity, variability and practical diagnostic algorithm for pyruvate dehydrogenase complex (PDC) deficiency

2. Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: Lack of correlation with genotype

3. The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders

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3. Recognizing and Managing a Metabolic Crisis;Pediatric Clinics of North America;2023-10

4. Amino acid ratio combinations as biomarkers for discriminating patients with pyruvate dehydrogenase complex deficiency from other inborn errors of metabolism;Molecular Genetics & Genomic Medicine;2023-09-08

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