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

2021 ◽  
Vol 132 ◽  
pp. S6-S7
Author(s):  
Jirair Bedoyan ◽  
Rosemary Hage ◽  
Ha Kyung Shin ◽  
Sharon Linard ◽  
Edwin Ferren ◽  
...  
Keyword(s):  
Amino Acid ◽  
Lactic Acidosis ◽  
Pyruvate Dehydrogenase ◽  
Pyruvate Dehydrogenase Complex ◽  
Specific Amino Acid ◽  
Dehydrogenase Complex

scholarly journals A recurrent case of pyruvate dehydrogenase complex deficiency

2020 ◽  
Vol 10 (1) ◽  
pp. 407
Author(s):  
Dhivya Venkatesan ◽  
Sunil Kumar Samal ◽  
Ashwini Vishalakshi ◽  
Pallavee P. ◽  
Prabh C. S.
Keyword(s):  
Lactic Acidosis ◽  
Pyruvate Dehydrogenase ◽  
Pyruvate Dehydrogenase Complex ◽  
Genetic Defect ◽  
Global Developmental Delay ◽  
Medical Termination ◽  
Complex Deficiency ◽  
Variant Analysis ◽  
Pyruvate Dehydrogenase Complex Deficiency ◽  
Dehydrogenase Complex

Pyruvate dehydrogenase complex deficiency is an inherited inborn error of metabolism causing lactic acidosis and several neurological symptoms. Its incidence and prevalence are not known. Here we report about a child with global developmental delay, central hypotonia and dyskinesia. Sanger sequencing was done and found to have homozygous nonsense mutation in exon 4 of PDHX gene causing lactic acidosis. In the next pregnancy selective Sanger variant analysis was carried out and the fetus was also found to be affected with the same genetic defect. Hence medical termination of Pregnancy was carried out. We conclude that early selective genetic testing will prevent further affected births.

Pyruvate Dehydrogenase Complex Deficiency

2016 ◽  
Author(s):  
Mirian C. H. Janssen ◽  
Shamima Rahman
Keyword(s):  
Lactic Acidosis ◽  
Pyruvate Dehydrogenase ◽  
Neonatal Death ◽  
Pyruvate Dehydrogenase Complex ◽  
Leigh Syndrome ◽  
Successful Therapy ◽  
Complex Deficiency ◽  
Benign Course ◽  
Pyruvate Dehydrogenase Complex Deficiency ◽  
Dehydrogenase Complex

Pyruvate dehydrogenase complex (PDHc) deficiency usually first manifests at a young age and is rarely diagnosed in adulthood. The clinical picture varies from neonatal death with overwhelming lactic acidosis to a relatively benign course early in life. The three main presentations are congenital lactic acidosis, Leigh syndrome, and episodic ataxia. Treatment consists of a ketogenic diet and cofactor supplementation with thiamine. Successful therapy is rare.

scholarly journals Phenylbutyrate Therapy for Pyruvate Dehydrogenase Complex Deficiency and Lactic Acidosis

2013 ◽  
Vol 5 (175) ◽  
pp. 175ra31-175ra31 ◽  
Author(s):  
R. Ferriero ◽  
G. Manco ◽  
E. Lamantea ◽  
E. Nusco ◽  
M. I. Ferrante ◽  
...  
Keyword(s):  
Lactic Acidosis ◽  
Pyruvate Dehydrogenase ◽  
Pyruvate Dehydrogenase Complex ◽  
Complex Deficiency ◽  
Pyruvate Dehydrogenase Complex Deficiency ◽  
Dehydrogenase Complex

scholarly journals Mutations in PDX1, the Human Lipoyl-Containing Component X of the Pyruvate Dehydrogenase–Complex Gene on Chromosome 11p1, in Congenital Lactic Acidosis

1997 ◽  
Vol 61 (6) ◽  
pp. 1318-1326 ◽  
Author(s):  
Bernard Aral ◽  
Chantal Benelli ◽  
Ghania Ait-Ghezala ◽  
Mohamed Amessou ◽  
Françoise Fouque ◽  
...  
Keyword(s):  
Lactic Acidosis ◽  
Pyruvate Dehydrogenase ◽  
Pyruvate Dehydrogenase Complex ◽  
Dehydrogenase Complex
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