Pyruvate Dehydrogenase Complex Deficiency

Leigh Syndrome ◽

Successful Therapy ◽

Complex Deficiency ◽

Benign Course ◽

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.

A recurrent case of pyruvate dehydrogenase complex deficiency

International Journal of Reproduction Contraception Obstetrics and Gynecology ◽

10.18203/2320-1770.ijrcog20205811 ◽

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 ◽

Genetic Defect ◽

Global Developmental Delay ◽

Medical Termination ◽

Complex Deficiency ◽

Variant Analysis ◽

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.

Phenylbutyrate Therapy for Pyruvate Dehydrogenase Complex Deficiency and Lactic Acidosis

Science Translational Medicine ◽

10.1126/scitranslmed.3004986 ◽

2013 ◽

Vol 5 (175) ◽

pp. 175ra31-175ra31 ◽

Cited By ~ 41

Author(s):

R. Ferriero ◽

G. Manco ◽

E. Lamantea ◽

E. Nusco ◽

M. I. Ferrante ◽

...

Keyword(s):

Lactic Acidosis ◽

Pyruvate Dehydrogenase ◽

Complex Deficiency ◽

Pyruvate Dehydrogenase Complex Deficiency due to a De Novo Heterozygous Mutation in Exon 7 of PDHA 1 Gene Presenting as Isolated Severe Lactic Acidosis in an Infant

The Indian Journal of Pediatrics ◽

10.1007/s12098-020-03394-w ◽

2020 ◽

Vol 88 (1) ◽

pp. 88-88

Author(s):

Ramaswamy Ganesh ◽

Natarajan Suresh ◽

B. Vasuki ◽

Karthik Narayanan

Keyword(s):

Lactic Acidosis ◽

Pyruvate Dehydrogenase ◽

De Novo ◽

Heterozygous Mutation ◽

Severe Lactic Acidosis ◽

Complex Deficiency ◽

Pyruvate Dehydrogenase Complex Deficiency due to a De Novo Heterozygous Mutation in Exon 7 of PDHA 1 Gene Presenting as Isolated Severe Lactic Acidosis in an Infant: Correspondence

The Indian Journal of Pediatrics ◽

10.1007/s12098-020-03473-y ◽

2020 ◽

Author(s):

Prateek Kumar Panda ◽

Indar Kumar Sharawat

Keyword(s):

Lactic Acidosis ◽

Pyruvate Dehydrogenase ◽

De Novo ◽

Heterozygous Mutation ◽

Severe Lactic Acidosis ◽

Complex Deficiency ◽

Pyruvate Dehydrogenase Complex Deficiency: An Unusual Cause of Recurrent Lactic Acidosis in a Paediatric Critical Care Unit

The Journal of Critical Care Medicine ◽

10.2478/jccm-2019-0012 ◽

2019 ◽

Vol 5 (2) ◽

pp. 71-75

Author(s):

Neha Gupta ◽

Chrystal Rutledge

Keyword(s):

Lactic Acidosis ◽

Pyruvate Dehydrogenase ◽

Neurodegenerative Disorder ◽

Brain Mri ◽

Elevated Serum ◽

Normal Brain ◽

Complex Deficiency ◽

Abstract Pyruvate dehydrogenase complex deficiency (PDCD) is a rare neurodegenerative disorder associated with abnormal mitochondrial metabolism. Structural brain abnormalities are common in PDCD. A case of a patient with PDCD with an unusual presentation is described. A 20-month-old boy with hypotonia and developmental delay, presented with hypoxia and respiratory distress due to bronchiolitis. During hospitalisation, he was prescribed PediaSure® feeds. Two days after starting these feeds, he developed respiratory arrest requiring intubation. His blood gas before arrest revealed lactate of 8.9 mmol/L despite normal haemodynamics. After stabilisation and a period of compulsory fasting, subsequent feeding with PediaSure® resulted in the recurrence of lactic acidosis. A metabolic workup revealed an elevated serum pyruvate level. Brain MRI was normal. Skeletal muscle biopsy confirmed PDCD. The most common cause of PDCD is a mutation in the X-linked PDHA1 gene. The severity of PDCD can range from neonatal death to more delayed onset of symptoms as in our index case. Normal brain MRI is reported in only 2% of patients with PDCD. There is no effective treatment for PDCD. In patients with proximal muscle weakness and feeding intolerance with glucose-containing feeds, the presence of lactic acidosis should raise the suspicion of PDCD irrespective of the patient's age and normal MRI.